FKTN - fukutin Gene

Homo sapiens

Also known as FCMD; CMD1X; LGMD2M; MDDGA4; MDDGB4; MDDGC4; LGMDR13

Gene ID: 2218 | Gene type: protein coding

About FKTN

Cytogenetic location: 9q31.2 Genomic coordinates (GRCh38): 9:105,558,130-105,641,118 (from NCBI)

This gene has 27 transcripts (splice variants), 204 orthologues and is associated with 13 phenotypes. Ubiquitous expression in thyroid (RPKM 2.6), brain (RPKM 2.5) and 25 other tissues.

Summary

The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a Glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]

FKTN Products(10)

mRNA	Protein	Name
NM_001079802.2	NP_001073270.1	ribitol-5-phosphate transferase FKTN isoform a
NM_001198963.2	NP_001185892.1	ribitol-5-phosphate transferase FKTN isoform b
NM_001351496.2	NP_001338425.1	ribitol-5-phosphate transferase FKTN isoform a
NM_001351497.2	NP_001338426.1	ribitol-5-phosphate transferase FKTN isoform c
NM_001351498.2	NP_001338427.1	ribitol-5-phosphate transferase FKTN isoform d
NM_001351499.2	NP_001338428.1	ribitol-5-phosphate transferase FKTN isoform e
NM_001351500.2	NP_001338429.1	ribitol-5-phosphate transferase FKTN isoform e
NM_001351501.2	NP_001338430.1	ribitol-5-phosphate transferase FKTN isoform e
NM_001351502.2	NP_001338431.1	ribitol-5-phosphate transferase FKTN isoform e
NM_006731.2	NP_006722.2	ribitol-5-phosphate transferase FKTN isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables phosphotransferase activity, for other substituted phosphate groups	IDA IDA: Inferred from direct assay	26923585	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17034757	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in negative regulation of JNK cascade	IMP IMP: Inferred from mutant phenotype	18808525	GOA
involved in negative regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	18808525	GOA
involved in protein O-linked glycosylation	IMP IMP: Inferred from mutant phenotype	17034757	GOA
involved in protein O-linked mannosylation	IMP IMP: Inferred from mutant phenotype	25279699	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	18808525	GOA
located in Golgi membrane	IDA IDA: Inferred from direct assay	17034757	GOA
located in cis-Golgi network	IDA IDA: Inferred from direct assay	15213246	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	18808525	GOA
located in nucleus	IDA IDA: Inferred from direct assay	18808525	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

FKTN Protein Structure

LicD

0
100
200
300
400
461 a.a.

Protein Preferred Names

Protein Names

ribitol-5-phosphate transferase FKTN

Fukuyama type congenital muscular dystrophy protein

FKTN Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	FKTN	O75072	RXYLT1	Homo sapiens	Q9Y2B1	Anti Tag CoIP	29477842

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Muscular Dystrophy-Dystroglycanopathy , Type A, 4

Fukuyama Congenital Muscular Dystrophy	Fcmd
MDDGA4	Fukuyama Type Congenital Muscular Dystrophy
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fktn-Related	Cerebromuscular Dystrophy, Fukuyama Type
Fukuyama Cmd	Fukuyama Muscular Dystrophy
Fukuyama Syndrome	Muscular Dystrophy, Congenital Progressive, With Mental Retardation
Muscular Dystrophy, Congenital, Fukuyama Type	Muscular Dystrophy, Congenital, With Central Nervous System Involvement
Polymicrogyria With Muscular Dystrophy	Congenital Muscular Dystrophy, Fukuyama Type
Fktn-Related Congenital Muscular Dystrophy	Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A4
Cerebromuscular Dystrophy Fukuyama Type	Congenital Muscular Dystrophy Fukuyama Type
Micropolygyria With Muscular Dystrophy	Muscle-Eye-Brain Disease Fktn-Related
Walker-Warburg Syndrome Fktn-Related

Muscular Dystrophy-Dystroglycanopathy , Type C, 4

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m	Lgmd2m
MDDGC4	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 13
Lgmdr13	Muscular Dystrophy, Limb-Girdle, Type 2m
Muscular Dystrophy-Dystroglycanopathy Type C 4	Fukutin-Related Limb-Girdle Muscular Dystrophy R13
Autosomal Recessive Lgmd Type 2m	Fukutin-Related Lgmd R13
Lgmd Type 2m	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C4
Limb-Girdle Muscular Dystrophy Type 2m	Mdgd4c
Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 4c	Dystrophy, Muscular, Limb-Girdle, Type 2m

Cardiomyopathy, Dilated, 1x

Dilated Cardiomyopathy 1x	CMD1X
Dilated Cardiomyopathy With Mild Or No Proximal Muscle Weakness	Cardiomyopathy, Dilated, With Mild Or No Proximal Muscle Weakness
Cardiomyopathy, Dilated 1x	Cardiomyopathy, Dilated, Type 1x

Muscular Dystrophy-Dystroglycanopathy , Type B, 4

MDDGB4	Muscular Dystrophy-Dystroglycanopathy , Type B4
Muscular Dystrophy, Congenital, Fktn-Related	Muscular Dystrophy-Dystroglycanopathy Type B4
Congenital Muscular Dystrophy Fktn-Related	Muscular Dystrophy-Dystroglycanopathy Congenital Without Impaired Intellectual Development B4
Muscular Dystrophy Congenital Fktn-Related	Dystrophy, Muscular, Dystroglycanopathy , Type B4

Walker-Warburg Syndrome

Hard Syndrome	Walker-Warburg Congenital Muscular Dystrophy
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome	Cod-Md Syndrome
Chemke Syndrome	Hydrocephalus, Agyria And Retinal Dysplasia
Cerebroocular Dysgenesis	Cerebroocular Dysplasia Muscular Dystrophy Syndrome
Hard +/- E Syndrome	Pagon Syndrome
Warburg Syndrome	Hydrocephalus, Agyria, And Retinal Dysplasia
Mddga	Muscular Dystrophy-Dystroglycanopathy , Type A
Muscular Dystrophy-Dystroglycanopathy [With Brain And Eye Anomalies], Type A	Hydrocephalus-Agyria-Retinal Dysplasia Syndrome
Wws	Dystrophy, Muscular, Dystroglycanopathy, Type A

Cdags Syndrome

Craniosynostosis, Anal Anomalies, And Porokeratosis	Fukuyama Type Muscular Dystrophy
Cap Syndrome	Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Fukuda Miyanomae Nakata Syndrome	Cerebromuscular Dystrophy, Fukuyama Type
Fcmd	Muscular Dystrophy, Congenital Progressive, With Mental Retardation
Muscular Dystrophy, Congenital, Fukuyama Type	Muscular Dystrophy, Congenital, With Central Nervous System Involvement
Craniosynostosis And Clavicular Hypoplasia, Delayed Closure Of The Fontanel, Anal Anomalies And Genitourinary Malformations	Fukuyama-Type Muscular Dystrophy
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Fukuyama Type Congenital Muscular Dystrophy

Muscular Dystrophy-Dystroglycanopathy , Type A, 1

Hard Syndrome	MDDGA1
Cerebroocular Dysplasia-Muscular Dystrophy Syndrome	Cod-Md Syndrome
Muscular Dystrophy-Dystroglycanopathy , Type A1	Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related
Hydrocephalus, Agyria, And Retinal Dysplasia	Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A1
Cerebroocular Dysgenesis	Cod
Hard +/- E Syndrome	Hydrocephalus-Agyria-Retinal Dysplasia
Meb	Muscle-Eye-Brain Disease
Muscle-Eye-Brain Disease Pomt1-Related	Muscular Dystrophy Due To Defective Glycosylation Of Dystroglycan 1a
Walker-Warburg Syndrome	Walker-Warburg Syndrome Pomt1-Related
Warburg Syndrome	Wws
Dystrophy, Muscular, Dystroglycanopathy , Type A1	Walker-Warburg Congenital Muscular Dystrophy
Muscle Eye Brain Disease

Congenital Muscular Dystrophy Without Intellectual Disability

Cmd Without Intellectual Disability	Cmd-No Mr
Congenital Muscular Dystrophy-Dystroglycanopathy Without Intellectual Disability

Muscle Eye Brain Disease

Muscle-Eye-Brain Disease	Muscle-Eye-Brain Syndrome
Meb	Muscular Dystrophy-Dystroglycanopathy Congenital With Brain And Eye Anomalies A3
Meb Syndrome	Santavuori Congenital Muscular Dystrophy

Cardiomyopathy, Dilated, 1b

Cardiomyopathy, Familial Dilated, 1	Cardiomyopathy, Dilated 1b
CMD1B	Cmpd1
Cardiomyopathy, Familial Dilated	Fdc
Dilated Cardiomyopathy 1b	Familial Dilated Cardiomyopathy

Dilated Cardiomyopathy

Familial Dilated Cardiomyopathy	Primary Dilated Cardiomyopathy
Idiopathic Dilated Cardiomyopathy	Congestive Cardiomyopathy
Idiopathic Dilation Cardiomyopathy	Primary Familial Dilated Cardiomyopathy
Cardiomyopathy, Dilated	DCM
Cardiomyopathy, Familial Dilated	Dilated Cardiomyopathy, Familial
Hypokinetic Dilated Cardiomyopathy, Familial	Familial Idiopathic Cardiomyopathy
Fdc	Cardiomyopathy, Familial Idiopathic
Idiopathic Cardiomegaly	Dilated Congestive Cardiomyopathy
Chronic Dilated Cardiomyopathy	Ccm - [Congestive Cardiomyopathy]
Cocm - [Congestive Cardiomyopathy]	Dcm - [Dilated Cardiomyopathy]
Dilated-Hypokinetic Cardiomyopathy	Congestive Idiopathic Cardiomyopathy
Primary Idiopathic Dilated Cardiomyopathy

Familial Isolated Dilated Cardiomyopathy

Familial Or Idiopathic Dilated Cardiomyopathy

Muscular Dystrophy

Muscular Dystrophies	Congenital Md
Congenital Muscular Dystrophy	Cmd
Mdc	Dystrophy, Muscular
Gower'S Muscular Dystrophy	Progressive Musclular Dystrophy
Pseudohypertrophic Atrophy	Pseudohypertrophic Muscle Paralysis
Pseudohypertrophic Muscular Atrophy	Pseudohypertrophic Muscular Dystrophy
Pseudohypertrophic Paralysis	Pseudomuscular Hypertrophy

Muscular Dystrophy-Dystroglycanopathy , Type B, 5

Mdc1c	Muscular Dystrophy-Dystroglycanopathy Type B5
MDDGB5	Muscular Dystrophy, Congenital, 1c
Muscular Dystrophy, Congenital, Fkrp-Related	Congenital Muscular Dystrophy 1c
Fkrp-Related Congenital Muscular Dystrophy	Muscular Dystrophy-Dystroglycanopathy Congenital With Or Without Impaired Intellectual Development B5
Muscular Dystrophy Congenital Type 1c	Muscular Dystrophy Fkrp-Related

Limb-Girdle Muscular Dystrophy

Lgmd	Limb Girdle Muscular Dystrophy
Muscular Dystrophies, Limb-Girdle	Erb'S Muscular Dystrophy
Leyden-Mbius Muscular Dystrophy	Limb-Girdle Syndrome
Myopathic Limb-Girdle Syndrome	Limb Girdle
Muscular Dystrophy Limb-Girdle	Dystrophy, Muscular, Limb-Girdle
Lgmd - [Limb-Girdle Muscular Dystrophy]	Limb Girdle Muscle Dystrophy
Limb-Girdle Myopathy

Cobblestone Lissencephaly

Lissencephaly Type 2

Lissencephaly, Cobblestone

Muscular Dystrophy-Dystroglycanopathy , Type B, 1

MDDGB1	Muscular Dystrophy-Dystroglycanopathy , Type B1
Muscular Dystrophy, Congenital, Pomt1-Related	Muscular Dystrophy-Dystroglycanopathy Type B1
Cmd Due To Dystroglycanopathy	Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B1
Muscular Dystrophy Congenital Pomt1-Related	Muscular Dystrophy-Dystroglycanopathy
Dystrophy, Muscular, Dystroglycanopathy , Type B1

Muscular Dystrophy, Congenital, Lmna-Related

Congenital Muscular Dystrophy	Congenital Muscular Dystrophy Due To Lmna Mutation
MDCL	L-Cmd
Lmna-Related Congenital Muscular Dystrophy	Muscular Dystrophy, Congenital
Congenital Muscular Dystrophy Lmna-Related	Lmna-Related Cmd
Cmd	Mdc
Muscular Dystrophy Congenital Lmna-Related	Dystrophy, Muscular, Congenital, Lmna-Related
Dystrophy, Muscular, Congenital	Hereditary Muscular Dystrophy
Congenital Hereditary Muscular Dystrophy	Congenital Progressive Muscular Dystrophy
Hereditary Progressive Muscular Dystrophy

Lissencephaly

Pachygyria	Broad Gyri Of Cerebrum
Large Gyri Of Cerebrum	Macrogyria

Muscular Dystrophy, Becker Type

Becker Muscular Dystrophy	BMD
Benign Pseudohypertrophic Muscular Dystrophy	Benign Congenital Myopathy
Becker Dystrophinopathy	Becker'S Muscular Dystrophy
Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type	Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type
Muscular Dystrophy Becker	Dystrophy, Muscular, Becker Type
Dystrophinopathy	Becker Dystrophy
Becker Type Dystrophy	Bmd - [Becker Muscular Dystrophy]

Congenital Muscular Dystrophy-Dystroglycanopathy Type A

Congenital Muscular Alpha-Dystroglycanopathy With Brain And Eye Anomalies	Mddga
Klissencephaly Type 2 With Muscular And Ocular Involvement	Lissencephaly Type 2 With Muscular And Ocular Involvement

Muscular Dystrophy-Dystroglycanopathy , Type B, 6

Muscular Dystrophy-Dystroglycanopathy Type B6	MDDGB6
Mdc1d	Muscular Dystrophy, Congenital, Type 1d
Congenital Muscular Dystrophy Type 1d	Dystrophy, Muscular, Dystroglycanopathy , Type B6
Muscular Dystrophy, Congenital, Large-Related	Congenital Muscular Dystrophy Large-Related
Muscular Dystrophy-Dystroglycanopathy Congenital With Impaired Intellectual Development B6	Muscular Dystrophy Large-Related

Ablepharon-Macrostomia Syndrome

Ablepharon Macrostomia Syndrome	AMS
Congenital Ablepharon, Absent Eyelashes/Eyebrows, Macrostomia, Auricular, Nasal, Genital And Other Systemic Anomalies	Eye Abnormalities

Muscular Dystrophy-Dystroglycanopathy , Type C, 3

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o	MDDGC3
Lgmd2o	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 15
Lgmdr15	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomgnt1-Related
Muscular Dystrophy, Limb-Girdle, Type 2o	Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomgnt1-Related
Muscular Dystrophy-Dystroglycanopathy Type C3	Pomgnt1-Related Limb-Girdle Muscular Dystrophy R15
Lgmd Type 2o	Limb-Girdle Muscular Dystrophy Type 2o
Pomgnt1-Related Lgmd R15	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C3
Dystrophy, Muscular, Limb-Girdle, Type 2o

Muscular Dystrophy, Congenital Merosin-Deficient, 1a

MDC1A	Lama2-Related Muscular Dystrophy
Atrophie Blanche	Muscular Dystrophy, Congenital Merosin-Deficient
Congenital Merosin-Deficient Muscular Dystrophy 1a	Merosin-Negative Congenital Muscular Dystrophy
Muscular Dystrophy White Matter Spongiosis	Merosin Deficient Congenital Muscular Dystrophy
Muscular Dystrophy Congenital, Merosin Negative	Muscular Dystrophy, Congenital, Merosin Deficient Or Partially Deficient
Cmd1a	Congenital Muscular Dystrophy Due To Laminin Alpha2 Deficiency
Congenital Muscular Dystrophy Type 1a	Laminin Alpha-2 Deficiency
Merosin-Deficient Congenital Muscular Dystrophy	Muscular Dystrophy, Congenital, Merosin-Deficient
Lama2 Md	Laminin Alpha 2 Deficiency
Laminin Alpha-2 Deficient Muscular Dystrophy	Merosin-Deficient Muscular Dystrophy
Muscular Dystrophy Due To Lama2 Deficiency	Merosin-Deficient Congenital Muscular Dystrophy 1a
Cardiomyopathy, Familial Idiopathic

Muscular Dystrophy-Dystroglycanopathy , Type C, 2

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n	Lgmd2n
MDDGC2	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 14
Lgmdr14	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Pomt2-Related
Limb-Girdle Muscular Dystrophy Type 2n	Muscular Dystrophy, Limb-Girdle, Type 2n
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Pomt2-Related	Muscular Dystrophy-Dystroglycanopathy Type C 2
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Lgmd Type 2n
Pomt2-Related Lgmd R14	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C2
Mdgd2c	Dystrophy, Muscular, Limb-Girdle, Type 2n

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2

Lgmd2b	Muscular Dystrophy, Limb-Girdle, Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e	Beta-Sarcoglycanopathy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y	Muscular Dystrophy, Limb-Girdle, Type 3
Lgmd3	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s
LGMDR2	Muscular Dystrophy, Limb-Girdle, Type 2s
Limb-Girdle Muscular Dystrophy Type 2b	Lgmd2e
Limb-Girdle Muscular Dystrophy Due To Beta-Sarcoglycan Deficiency	Muscular Dystrophy, Limb-Girdle, Type 2e
Lgmd2s	Autosomal Recessive Muscular Dystrophy Due To Lap1b Deficiency
Autosomal Recessive Muscular Dystrophy Due To Torsin-1a-Interacting Protein 1 Deficiency	Lgmd2y
Muscular Dystrophy With Progressive Weakness, Distal Contractures And Rigid Spine	Muscular Dystrophy, Limb-Girdle, Type 2y
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Dysferlin-Related Lgmd R2	Lgmd Due To Dysferlin Deficiency
Lgmd Type 2b	Limb-Girdle Muscular Dystrophy Due To Dysferlin Deficiency
Limb-Girdle Muscular Dystrophy 2b	Limb-Girdle Muscular Dystrophy, Type 2b
Dystrophy, Muscular, Limb-Girdle, Autosomal Recessive, Type 2	Dystrophy, Muscular, Limb-Girdle, Type 2b
Limb-Girdle Muscular Dystrophy, Type 2e

Muscular Dystrophy-Dystroglycanopathy , Type C, 1

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k	Lgmd2k
MDDGC1	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 11
Lgmdr11	Muscular Dystrophy, Limb-Girdle, Type 2k
Limb-Girdle Muscular Dystrophy-Intellectual Disability Syndrome	Limb-Girdle Muscular Dystrophy Type 2k
Muscular Dystrophy Limb-Girdle Type 2k	Muscular Dystrophy-Dystroglycanopathy Type C 1
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Lgmd Type 2k
Pomt1-Related Lgmd R11	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C1
Dystrophy, Muscular, Limb-Girdle, Type 2k	Limb-Girdle Muscular Dystrophy-Dystroglycanopathy, Type C1

Muscular Dystrophy-Dystroglycanopathy

Cmd Due To Dystroglycanopathy	Congenital Muscular Dystrophy Due To Dystroglycanopathy
Mddg	Dystrophy, Muscular, Dystroglycanopathy

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l

Lgmd2l

Muscular Dystrophy, Limb-Girdle, Type 2l

Congenital Muscular Dystrophy-Dystroglycanopathy Type A3

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A3	Mddga3
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomgnt1-Related	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A3

Muscular Dystrophy, Congenital, 1b

MDC1B	Congenital Muscular Dystrophy 1b
Cmd1b	Congenital Muscular Dystrophy Type 1b
Familial Dilated Cardiomyopathy

Congenital Muscular Dystrophy-Dystroglycanopathy A7

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A7	Mddga7
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease Ispd-Related	Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A7

Congenital Muscular Dystrophy-Dystroglycanopathy Type A1

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A1	Mddga1
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Pomt1-Related

Muscular Dystrophy-Dystroglycanopathy , Type C, 5

Lgmd2i	Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i
MDDGC5	Limb-Girdle Muscular Dystrophy Due To Fkrp Deficiency
Limb-Girdle Muscular Dystrophy Type 2i	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 9
Lgmdr9	Muscular Dystrophy, Limb-Girdle, Type 2i
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Frkp-Related	Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Fkrp-Related Lgmd R9	Lgmd Due To Fkrp Deficiency
Lgmd Type 2i	Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Frkp-Related
Muscular Dystrophy Limb-Girdle Type 2i	Muscular Dystrophy-Dystroglycanopathy Type C 5
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C5	Dystrophy, Muscular, Limb-Girdle, Type 2i

Muscular Dystrophy-Dystroglycanopathy , Type C, 7

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2u	Lgmd2u
MDDGC7	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 20
Lgmdr20	Muscular Dystrophy, Limb-Girdle, Type 2u
Autosomal Recessive Limb-Girdle Muscular Dystrophy Due To Ispd Deficiency	Muscular Dystrophy Limb-Girdle Type 2u
Muscular Dystrophy-Dystroglycanopathy Type C7	Ispd-Related Limb-Girdle Muscular Dystrophy R20
Ispd-Related Lgmd R20	Lgmd Type 2u
Limb-Girdle Muscular Dystrophy Type 2u	Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C7
Dystrophy, Muscular, Dystroglycanopathy, Type C7

Congenital Muscular Dystrophy-Dystroglycanopathy Type A5

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A5	Mddga5
Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease, Fkrp-Related

Hydrocephalus

Hydrocephalus, Nonsyndromic, Autosomal Recessive	Hydrocephalus, X-Linked
Hydrocephalus Adverse Event	Hydrocephaly Nos

Muscular Dystrophy-Dystroglycanopathy , Type C, 14

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2t	Lgmd2t
MDDGC14	Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 19
Lgmdr19	Muscular Dystrophy Limb-Girdle Type 2t
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle Gmppb-Related	Muscular Dystrophy, Limb-Girdle, Type 2t
Muscular Dystrophy-Dystroglycanopathy, Limb-Girdle, Gmppb-Related	Muscular Dystrophy-Dystroglycanopathy Type C14
Gmppb-Related Limb-Girdle Muscular Dystrophy R19	Gmppb-Related Lgmd R19
Lgmd Type 2t	Limb-Girdle Muscular Dystrophy Type 2t
Muscular Dystrophy-Dystroglycanopathy Limb-Girdle C14	Dystrophy, Muscular, Limb-Girdle, Type 2t

Alkuraya-Kucinskas Syndrome

ALKKUCS	Kiaa1109-Related Early Lethal Congenital Brain Malformations-Arthrogryposis Syndrome
Arthrogryposis

Retinal Lattice Degeneration

Palisade Degeneration Of Retina

Lattice Retinal Degeneration

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive

Cardiomyopathy, Dilated, 3b

Dilated Cardiomyopathy 3b	CMD3B
X-Linked Dilated Cardiomyopathy	Xlcm
Dmd-Associated Dilated Cardiomyopathy	Cardiomyopathy, Dilated, X-Linked
Dmd-Related Dilated Cardiomyopathy	Xldc
Cardiomyopathy, Dilated, X-Linked 3b	Cardiomyopathy, Dilated, Type 3b

Lissencephaly 2

Norman-Roberts Syndrome	Lissencephaly Syndrome, Norman-Roberts Type
LIS2	Lissencephaly With Cerebellar Hypoplasia
Lch	Lissencephaly Syndrome Norman-Roberts Type
Norman Roberts Lissencephaly Syndrome	Lissencephaly 3
Lis3	Microlissencephaly Type A
Norman-Roberts Lissencephaly Syndrome	Lissencephaly, Type 2
Cobblestone Lissencephaly

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a

Leyden-Moebius Muscular Dystrophy	Lgmd2a
Limb-Girdle Muscular Dystrophy Due To Calpain Deficiency	Muscular Dystrophy, Limb-Girdle, Type 2a
Pelvofemoral Muscular Dystrophy	Primary Calpainopathy

Muscular Dystrophy, Duchenne Type

Duchenne Muscular Dystrophy	DMD
Muscular Dystrophy, Duchenne	Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type
Severe Dystrophinopathy, Duchenne Type	Muscular Dystrophy Duchenne
Dystrophy, Muscular, Duchenne Type	Benign Duchenne Muscular Dystrophy
Duchenne Motor Neuron Disease	Duchenne Type Dystrophy
Duchenne-Griesinger Disease

Rigid Spine Muscular Dystrophy 1

Rigid Spine Syndrome	RSMD1
Rss	Mdrs1
Eichsfeld Type Congenital Muscular Dystrophy	Desmin-Related Myopathy With Mallory Bodies
Classic Multiminicore Myopathy	Sepn1-Related Myopathy
Multicore Myopathy, Severe Classic Form	Minicore Myopathy, Severe Classic Form
Multiminicore Disease, Severe Classic Form	Muscular Dystrophy, Rigid Spine, 1
Classic Mmd	Classic Multiminicore Disease
Congenital Merosin-Positive Muscular Dystrophy With Early Spine Rigidity	Desmin-Related Myopathy With Mallory Body-Like Inclusions
Early-Onset Desmin-Related Myopathy	Myopathy, Sepn1-Related
Muscular Dystrophy, Congenital, Merosin-Positive, With Early Spine Rigidity	Muscular Dystrophy, Congenital, Eichsfeld Type
Severe Classic Form Minicore Myopathy	Severe Classic Form Multicore Myopathy
Severe Classic Form Multiminicore Disease	Desmin-Related Myopathies With Mallory Bodies
Muscular Dystrophy, Congenital, Merosin Positive With Early Spine Rigidity	Rigid Spine Muscular Dystrophy-1
Rigid Spine Congenital Muscular Dystrophy	Congenital Muscular Dystrophy Eichsfeld Type
Congenital Muscular Dystrophy Merosin-Positive With Early Spine Rigidity	Minicore Myopathy Severe Classic Form
Multicore Myopathy Severe Classic Form	Multiminicore Disease Severe Classic Form
Dystrophy, Muscular, Rigid Spine, Type 1

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d

Alpha-Sarcoglycanopathy	Dmda2
Duchenne-Like Autosomal Recessive Muscular Dystrophy Type 2	Lgmd2d
Muscular Dystrophy, Limb-Girdle, Type 2d	Primary Adhalinopathy

Hydrophthalmos

Muscle Tissue Disease

Microphthalmia

Microphthalmos	Isolated Anophthalmia-Microphthalmia Syndrome
Isolated Microphthalmia-Anophthalmia-Coloboma	Simple Microphthalmos
Clinical Anophthalmia	Isolated Anophthalmia - Microphthalmia
Isolated Pure Microphthalmia	Mac Spectrum
Microphthalmia-Anophthalmia-Coloboma Spectrum	Primitive Anophthalmia
Globe Of Eye Small	Small Eyeball
Hypoplasia Of Eye	Isolated Nanophthalmos
Rudimentary Eye	Dysplasia Of Eye

Glaucoma 3, Primary Congenital, A

Buphthalmos	Glaucoma, Congenital
Congenital Glaucoma	Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset
GLC3A	Glc3
Buphthalmia	Primary Congenital Glaucoma
Glaucoma, Primary Open Angle, Juvenile-Onset	Simple Buphthalmos
Buphthalmus	Glaucoma, Primary Open Angle, Adult-Onset
Primary Congenital Glaucoma 3a	Primary Infantile Glaucoma Type 3a
Glaucoma 3a, Primary Congenital	Glaucoma, Congenital, Primary, Type 3a
Hydrophthalmos	Cystic Eyeball

Miller-Dieker Lissencephaly Syndrome

Miller-Dieker Syndrome	Mds
MDLS	Miller Dieker Syndrome
Classical Lissencephaly Syndrome	Lissencephaly Due To 17p13.3 Deletion
Monosomy 17p13.3	Telomeric Deletion 17p
Classical Lissencephaly

Physical Disorder

Physical Illness

Muscular Disease

Bethlem Myopathy 1

Bethlem Myopathy	Myopathy, Benign Congenital, With Contractures
Muscular Dystrophy, Benign Congenital	BTHLM1
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 5	Lgmdd5
Benign Congenital Muscular Dystrophy	Benign Autosomal Dominant Myopathy
Myopathy, Bethlem	Myopathy, Bethlem, Type 1

Myopathy

Muscular Diseases

Myopathies

Spinal Muscular Atrophy, Type I

Werdnig-Hoffmann Disease	SMA1
Spinal Muscular Atrophy 1	Sma I
Sma, Infantile Acute Form	Muscular Atrophy, Infantile
Spinal Muscular Atrophy-1	Hmn Proximal Type I
Infantile Muscular Atrophy	Proximal Spinal Muscular Atrophy Type 1
Sma Type 1	Sma Type I
Sma-I	Hereditary Motor Neuropathy Proximal Type I
Progressive Muscular Atrophy Of Infancy	Proximal Spinal Muscular Atrophy, Type 1
Werdnig Hoffmann Disease	Infantile Spinal Muscular Atrophy
Infantile-Onset Spinal Muscular Atrophy	Proximal Hereditary Motor Neuropathy Type I
Sma Infantile Acute Form	Spinal Muscular Atrophy Type I
Werdnig-Hoffman Disease	Atrophy, Muscular, Spinal, Type 1

Polymicrogyria

Pmg

Congenital Myasthenic Syndrome

Congenital Myasthenia	Congenital Myasthenic Syndromes
Cms	Myasthenic Syndromes, Congenital
Myasthenic Syndromes Congenital	Myasthenic Syndrome, Congenital
Congenital Myasthenic Syndrome Ib	Congenital And Developmental Myasthenia
Developmental Myasthenia

Microcephaly

Microencephaly	Microcephalus
Microcephalic	Nanocephaly
Congenital Microcephaly	Brain Hypoplasia
Brain Nondevelopment	Cephalic Hypoplasia
Undeveloped Cerebrum	Undeveloped Brain
Micrencephalon	Micrencephaly

Ullrich Congenital Muscular Dystrophy 1

Ullrich Congenital Muscular Dystrophy	Ullrich Disease
Ucmd	Ullrich Scleroatonic Muscular Dystrophy
Scleroatonic Muscular Dystrophy	UCMD1
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 22	Lgmdr22
Muscular Dystrophy, Scleroatonic	Late Onset Scleroatonic Familial Myopathy
Congenital Muscular Dystrophy, Ullrich Type

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

Cardiomyopathy, Familial Hypertrophic, 1

Asymmetric Septal Hypertrophy	Familial Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 1	CMH1
Hypertrophic Cardiomyopathy 19	CMH
Ventricular Hypertrophy, Hereditary	Ash
Hypertrophic Subaortic Stenosis, Idiopathic	Cardiomyopathy, Familial Hypertrophic
Cardiomyopathy, Hypertrophic, 1, Digenic	Cardiomyopathy, Familial Hypertrophic 1
Hcm	Hereditary Ventricular Hypertrophy
Idiopathic Hypertrophic Subaortic Stenosis	Hypertrophic Cardiomyopathy
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy, Hypertrophic, 1
Familial Asymmetric Septal Hypertrophy	Heritable Hypertrophic Cardiomyopathy
Fhc	Cardiomyopathy, Hypertrophic, Familial, Type 1

Left Ventricular Noncompaction

Noncompaction Cardiomyopathy	Left Ventricular Hypertrabeculation
Lvnc	Spongy Myocardium
Isolated Noncompaction Of The Ventricular Myocardium	Left Ventricular Myocardial Noncompaction Cardiomyopathy
Fetal Myocardium	Honeycomb Myocardium
Hypertrabeculation Syndrome	Left Ventricular Non-Compaction
Lvht	Non-Compaction Of The Left Ventricular Myocardium
Ventricular Noncompaction, Left	Non-Compaction Cardiomyopathy

Neuromuscular Disease

Neuromuscular Diseases	Neuromuscular Disorders
Neuromuscular Disorder

Amyotrophic Lateral Sclerosis 1

Amyotrophic Lateral Sclerosis	ALS
Lou Gehrig Disease	Amyotrophic Lateral Sclerosis Type 1
Charcot Disease	ALS1
Amyotrophic Lateral Sclerosis, Susceptibility To	Fals
Lou Gehrig'S Disease	Mnd
Motor Neuron Disease	Familial Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 1, Familial	Amyotrophic Lateral Sclerosis 1, Autosomal Dominant
Motor Neuron Disease, Bulbar	Motor Neurone Disease
Amyotrophic Lateral Sclerosis With Dementia	Dementia With Amyotrophic Lateral Sclerosis
Motor Neuron Disease, Amyotrophic Lateral Sclerosis	Sclerosis, Lateral, Amyotrophic
Sclerosis, Lateral, Amyotrophic, Type 1	Amyotrophic Sclerosis
Als - [Amyotrophic Lateral Sclerosis]	Wasting Palsy
Amyotrophic Paralysis	Amyotrophy Lateral Sclerosis
Wasting Paralysis	Spinal Progressive Amyotrophy
Progressive Atrophic Paralysis

Zellweger Syndrome

Cerebrohepatorenal Syndrome	Zellweger Leukodystrophy
Zs	Congenital Iron Overload
Chr	Zws
Severe Pbd-Zsd	Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04972	FKTN Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	FKTN	VGNC	VGNC:40897
Macaca mulatta	FKTN	VGNC	VGNC:103264
Felis catus	FKTN	VGNC	VGNC:62288
Bos taurus	FKTN	VGNC	VGNC:29030
Mus musculus	FKTN	MGD	MGI:2179507
Rattus norvegicus	FKTN	RGD	RGD:1310087