CLN3 - CLN3 lysosomal/endosomal transmembrane protein, battenin Gene

Homo sapiens

Also known as BTS; BTN1; JNCL

Gene ID: 1201 | Gene type: protein coding

About CLN3

Cytogenetic location: 16p12.1 Genomic coordinates (GRCh38): 16:28,466,653-28,492,082 (from NCBI)

This gene has 62 transcripts (splice variants), 193 orthologues and is associated with 5 phenotypes. Ubiquitous expression in placenta (RPKM 23.0), colon (RPKM 17.0) and 25 other tissues.

Summary

This gene encodes a protein that is involved in lysosomal function. Mutations in this, as well as other neuronal ceroid-lipofuscinosis (CLN) genes, cause neurodegenerative diseases commonly known as Batten disease or collectively known as neuronal ceroid lipofuscinoses (NCLs). Many alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

CLN3 Products(6)

mRNA	Protein	Name
NM_000086.2	NP_000077.1	battenin isoform a
NM_001042432.2	NP_001035897.1	battenin isoform a
NM_001286104.2	NP_001273033.1	battenin isoform b
NM_001286105.2	NP_001273034.1	battenin isoform c
NM_001286109.2	NP_001273038.1	battenin isoform d
NM_001286110.2	NP_001273039.1	battenin isoform e

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables glycolipid binding	IDA IDA: Inferred from direct assay	18317235	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	12134079	GOA
enables sulfatide binding	IDA IDA: Inferred from direct assay	18317235	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in Golgi to lysosome transport	IMP IMP: Inferred from mutant phenotype	18817525	GOA
involved in L-arginine transmembrane transport	IDA IDA: Inferred from direct assay	16251196	GOA
involved in amyloid precursor protein catabolic process	IDA IDA: Inferred from direct assay	10924275	GOA
involved in glycerophospholipid biosynthetic process	IMP IMP: Inferred from mutant phenotype	17482562	GOA
involved in glycolipid transport	IMP IMP: Inferred from mutant phenotype	18317235	GOA
involved in lysosomal lumen acidification	IMP IMP: Inferred from mutant phenotype	11722572	GOA
involved in lysosomal lumen pH elevation	IDA IDA: Inferred from direct assay	10924275	GOA
involved in negative regulation of apoptotic process	IMP IMP: Inferred from mutant phenotype	15240864	GOA
involved in receptor-mediated endocytosis	IMP IMP: Inferred from mutant phenotype	15471887	GOA
involved in regulation of cellular response to osmotic stress	IMP IMP: Inferred from mutant phenotype	23840424	GOA
involved in regulation of cytoskeleton organization	IMP IMP: Inferred from mutant phenotype	20850431	GOA
involved in regulation of fibroblast migration	IMP IMP: Inferred from mutant phenotype	20850431	GOA
involved in regulation of protein processing	IMP IMP: Inferred from mutant phenotype	10924275	GOA
involved in vesicle transport along microtubule	IMP IMP: Inferred from mutant phenotype	22261744	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IDA IDA: Inferred from direct assay	10332042	GOA
located in Golgi apparatus	IMP IMP: Inferred from mutant phenotype	23840424	GOA
located in Golgi membrane	IDA IDA: Inferred from direct assay	9949212	GOA
located in Golgi stack	IDA IDA: Inferred from direct assay	15240864	GOA
located in caveola	IDA IDA: Inferred from direct assay	15240864	GOA
located in caveola	IMP IMP: Inferred from mutant phenotype	23840424	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	10191116	GOA
located in early endosome	IDA IDA: Inferred from direct assay	15240864	GOA
located in early endosome membrane	IMP IMP: Inferred from mutant phenotype	23840424	GOA
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	10191111	GOA
located in endoplasmic reticulum membrane	IDA IDA: Inferred from direct assay	12706816	GOA
located in late endosome	IDA IDA: Inferred from direct assay	10332042	GOA
located in late endosome	IMP IMP: Inferred from mutant phenotype	23840424	GOA
located in lysosomal membrane	IDA IDA: Inferred from direct assay	9384607	GOA
located in lysosomal membrane	IMP IMP: Inferred from mutant phenotype	15598649	GOA
located in lysosome	IDA IDA: Inferred from direct assay	10332042	GOA
located in lysosome	IMP IMP: Inferred from mutant phenotype	14644441	GOA
located in membrane	IDA IDA: Inferred from direct assay	10191112	GOA
located in membrane raft	IDA IDA: Inferred from direct assay	15240864	GOA
located in membrane raft	IMP IMP: Inferred from mutant phenotype	23840424	GOA
located in neuron projection	IDA IDA: Inferred from direct assay	10332042	GOA
located in nucleus	IDA IDA: Inferred from direct assay	10191116	GOA
located in plasma membrane	IDA IDA: Inferred from direct assay	10191116	GOA
located in plasma membrane	IMP IMP: Inferred from mutant phenotype	14644441	GOA
located in recycling endosome	IDA IDA: Inferred from direct assay	15240864	GOA
located in synaptic vesicle	IDA IDA: Inferred from direct assay	10332042	GOA
located in trans-Golgi network	IDA IDA: Inferred from direct assay	10332042	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

CLN3 Protein Structure

CLN3

0
100
200
300
400
438 a.a.

Protein Preferred Names

Protein Names

battenin

CLN3, battenin

Related Diseases

Diseases

Alias

Ceroid Lipofuscinosis, Neuronal, 3

Batten Disease	Juvenile Neuronal Ceroid Lipofuscinosis
Neuronal Ceroid Lipofuscinosis 3	CLN3
Jncl	Spielmeyer-Vogt Disease
Vogt-Spielmeyer Disease	Spielmeyer-Sjogren Disease
Cln3 Disease	Neuronal Ceroid Lipofuscinosis, Juvenile
Cln3 Disease, Juvenile	Spielmeyer Sjogren Disease
Vogt Spielmeyer Disease	Batten-Mayou Disease
Batten-Spielmeyer-Vogt Disease	Cln3-Related Neuronal Ceroid-Lipofuscinosis
Juvenile Batten Disease	Juvenile Cerebroretinal Degeneration
Classic Juvenile Ncl	Classic Juvenile Neuronal Ceroid Lipofuscinosis
Juvenile Ncl	Lipofuscinosis, Ceroid, Neuronal, Type 3

Neuronal Ceroid Lipofuscinosis

Hereditary Ceroid Lipofuscinosis	Batten Disease
Ncl	Neuronal Ceroid-Lipofuscinoses
Lipofuscinosis, Ceroid, Neuronal	Juvenile Neuronal Ceroid Lipofuscinosis
Cerebromacular Dystrophy	Cerebromacular Degeneration
Ceroid-Lipofuscinosis	Ncl - [Neuronal Ceroid Lipofuscinosis]
Amaurotic Familial Idiocy	Amaurotic Idiocy
Amaurotic Idiot	Neuronal Lipofuscinosis
Pigmentary Retinal Lipoid Neuronal Heredodegeneration

Stargardt Disease 1

Fundus Flavimaculatus	STGD1
Retinal Dystrophy, Early-Onset Severe	Macular Dystrophy With Flecks, Type 1
Stargardt'S Disease	Stgd
Macular Degeneration, Juvenile	Macular Degeneration Juvenile
FFM	Juvenile Macular Degeneration
Macular Dystrophy With Flecks Type 1	Early Onset And Severe Retinal Dystrophy

Cone-Rod Dystrophy 2

Cone-Rod Dystrophy	CORD2
Cone-Rod Retinal Dystrophy	Rcrd2
Cone-Rod Retinal Dystrophy 2	Crd2
Cord	Crd
Retinal Cone-Rod Dystrophy	Cone-Rod Retinal Dystrophy-2
Retinal Cone-Rod Dystrophy 2	Tapetoretinal Degeneration
Cone-Rod Degeneration	Cone Rod Dystrophy
Dystrophy, Cone-Rod	Dystrophy, Cone-Rod, Type 2
Retinitis Pigmentosa	Retinitis Pigmentosa 2
Progressive Cone-Rod Dystrophy

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

Neuronal Ceroid-Lipofuscinoses

Infantile Neuronal Ceroid Lipofuscinosis	Santavuori Disease
Hagberg-Santavuori Disease	Incl
Infantile Ncl	Santavuori-Haltia Disease
Neuronal Ceroid-Lipofuscinosis, Infantile	Lipofuscin Storage Disease
Neuronal Ceroid Lipofuscinoses	Juvenile Neuronal Ceroid Lipofuscinosis

Peripheral Retinal Degeneration

Peripheral Degeneration Of Retina	Degeneration Of Retina Nos
Reticular Retinal Degeneration	Retinal Degeneration

Ceroid Lipofuscinosis, Neuronal, 2

Jansky-Bielschowsky Disease	Neuronal Ceroid Lipofuscinosis 2
CLN2	Lincl
Cln2 Disease	Late-Infantile Neuronal Ceroid Lipofuscinosis
Ceroid Lipofuscinosis, Neuronal, 2, Variable Age At Onset	Neuronal Ceroid Lipofuscinosis 2 Variable Age At Onset
Cln2 Disease, Juvenile	Cln2 Disease, Late Infantile
Late-Infantile Batten Disease	Neuronal Ceroid Lipofuscinosis, Late-Infantile
Classic Late Infantile Ncl	Classic Late Infantile Neuronal Ceroid Lipofuscinosis
Neuronal Ceroid Lipofuscinosis 2 With Variable Age At Onset	Lipofuscinosis, Ceroid, Neuronal, Type 2
Late-Infantile Neuronal Ceroid Lipfuscinosis

Retinal Degeneration

Degeneration Of Retina

Lysosomal Storage Disease

Lysosomal Storage Diseases	Disorder Of Lysosomal Enzyme
Inborn Lysosomal Enzyme Disorder	Lysosomal Storage Metabolism Disorder
Lysosomal Storage Disorder

Phelan-Mcdermid Syndrome

Chromosome 22q13.3 Deletion Syndrome	22q13.3 Deletion Syndrome
Telomeric 22q13 Monosomy Syndrome	PHMDS
Deletion 22q13 Syndrome	22q13.3 Deletion
Deletion 22q13.3 Syndrome	Monosomy 22q13
Monosomy 22q13.3	22q13 Deletion Syndrome
Monosomy 22q13 Syndrome	22q13 Deletion
Chromosome Deletion

Myoclonic Epilepsy Of Lafora

Lafora Disease	Epilepsy, Progressive Myoclonic 2b
EPM2	Melf
Epilepsy, Progressive Myoclonic 2a	Epm2a
Lafora'S Disease	Lafora Body Disease
Lbd	Epilepsy, Progressive Myoclonic, 2a
Lafora Progressive Myoclonic Epilepsy	Epilepsy Progressive Myoclonic 2
Lafora Body Disorder	Pme Type 2
Progressive Myoclonic Epilepsy Type 2	Progressive Myoclonus Epilepsy Type 2
Epilepsy, Progressive Myoclonic 2	Epm2b
Ld	Progressive Myoclonic Epilepsy 2
Progressive Myoclonic Epilepsy 2a	Progressive Myoclonic Epilepsy 2b
Progressive Myoclonic Epilepsy Lafora Type	Epilepsy, Myoclonic, Of Lafora

Ceroid Lipofuscinosis, Neuronal, 13

Neuronal Ceroid Lipofuscinosis 13	CLN13
Neuronal Ceroid Lipofuscinosis 13 Kufs Type	Cln13 Disease
Lipofuscinosis, Ceroid, Neuronal, Type 13

Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant

Northern Epilepsy	Neuronal Ceroid Lipofuscinosis 8 Northern Epilepsy Variant
Epmr	Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Northern Epilepsy Syndrome	Epilepsy, Progressive, With Mental Retardation
Northern Epilepsy Variant, Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant	Progressive Epilepsy With Mental Retardation, Northern Epilepsy
Cln8 Disease, Northern Epilepsy Variant	Ncl, Northern Epilepsy Variant
Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant	CLN8NE
Ceroid Lipofuscinosis, Neuronal, 8

Scheie Syndrome

Mucopolysaccharidosis Type Is	Alpha-L-Iduronidase Deficiency
Mucopolysaccharidosis Type I	Mucopolysaccharidosis I
Hurler-Scheie Syndrome	Mucopolysaccharidosis Type 1
Mucopolysaccharidosis Is	Mucopolysaccharidosis Type 1s
Mucopolysaccharidosis Type V	Hurler Syndrome
Idua Deficiency	Mps I
MPS1S	Mps1-S
Mucopolysaccharidosis Type V, Formerly	Mps V, Formerly
Mps5, Formerly	Lipochondrodystrophy
Mpsis	Mucopolysaccharidosis, Type I
Iduronidase Deficiency Disease	Mps I - Hurler Syndrome
Mucopolysaccharidosis, Mps-I	Mucopolysaccharidosis, Type 1
Attenuated Mps I	Mps 1
Scheie Syndrome Formerly Known As Mucopolysaccharidosis Type V)	Severe Mps I
Mps I H	Mps I H-S
Mps I S	Mps1
Mpsi	Mucopolysaccharidosis 1s
Mps Is	Mps-Is
Mps V	Mucopolysaccharidosis V
Pfaundler-Hurler Syndrome	L-Iduronidase Deficiency
Dysostosis Multiplex	Dysostosis Multiplex Syndrome
Gargoylism	Mps1 - [Mucopolysaccharidosis Type 1]

Ceroid Lipofuscinosis, Neuronal, 11

Neuronal Ceroid Lipofuscinosis 11	CLN11
Cln11 Disease	Grn-Related Neuronal Ceroid-Lipofuscinosis
Lipofuscinosis, Ceroid, Neuronal, Type 11

Ceroid Lipofuscinosis, Neuronal, 10

Neuronal Ceroid Lipofuscinosis Due To Cathepsin D Deficiency	Neuronal Ceroid Lipofuscinosis 10
CLN10	Cathepsin D Deficiency
Congenital Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis Cathepsin D-Deficient
Cln10 Disease	Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient
Cln10 Disease, Adult	Cln10 Disease, Congenital
Cln10 Disease, Juvenile	Cln10 Disease, Late Infantile
Ceroid Lipofuscinosis Neuronal Cathepsin D-Deficient	Cathepsin D Deficient Neuronal Ceroid Lipofuscinosis
Congenital Ncl	Lipofuscinosis, Ceroid, Neuronal, Type 10
Neuronal Ceroid Lipofuscinosis, Congenital

Unverricht-Lundborg Syndrome

Unverricht-Lundborg Disease	Epm1
Myoclonic Epilepsy Of Unverricht And Lundborg	Myoclonus Progressive Epilepsy Of Unverricht And Lundborg
Unverricht - Lundborg Disease	Unverricht'S Disease
Epilepsy, Progressive Myoclonic Type 1	Epilepsy, Progressive Myoclonus 1
Progressive Myoclonus Epilepsy Baltic Myoclonic Epilepsy	Baltic Myoclonic Epilepsy
Baltic Myoclonus	Baltic Myoclonus Epilepsy
Lundborg-Unverricht Syndrome	Mediterranean Myoclonic Epilepsy
Pme	Progressive Myoclonic Epilepsy
Progressive Myoclonus Epilepsy 1	Uld
Myoclonic Epilepsies, Progressive

Aspartylglucosaminuria

Aspartylglycosaminuria	Glycosylasparaginase Deficiency
Aspartylglucosaminidase Deficiency	Aga Deficiency
AGU	Aspartylglucosamidase Deficiency
Glycoasparaginase	Aspartylglucosamidase Deficiency
Hyperammonemia, Type Iii

Progressive Myoclonus Epilepsy 3

Cln14 Disease	Epm3
Neuronal Ceroid Lipofuscinosis 14	Pme Type 3
Progressive Myoclonic Epilepsy Due To Kctd7 Deficiency	Progressive Myoclonus Epilepsy Type 3
Epilepsy, Progressive Myoclonic 3

Mucopolysaccharidosis, Type Iiia

Mucopolysaccharidosis Type Iiia	MPS3A
Mps Iiia	Sanfilippo Syndrome A
Heparan Sulfate Sulfatase Deficiency	Sulfamidase Deficiency
Heparan Sulfamidase Deficiency	Mpsiiia
Mucopolysaccharidosis Type 3a	Sanfilippo Syndrome Type A
Mucopolysaccharidosis Iii-A	Heparane Sulfamidase Deficiency
Mps 3a	Mucopoly-Saccharidosis Type 3a
Mps Iii-A	Mucopolysaccharidosis 3a
Mucopolysaccharidosis Iii

Lipid Storage Disease

Lipoidosis	Inborn Lipid Storage Disorder
Lipoid Storage Diseas	Lipid Storage Diseases
Lipidoses

Glycoproteinosis

Sialidosis	Mucolipidosis Type I
Mucolipidoses	Cherry Red Spot Myoclonus Syndrome
Mucolipidosis I	Myoclonus Cherry Red Spot Syndrome
Type I Mucolipidosis	Lipomucopolysaccharidosis
Disorders Of Glycoprotein Metabolism	Glycoprotein Storage Disorder

Gm1 Gangliosidosis

Beta-Galactosidase Deficiency	Gangliosidosis Gm1
Deficiency Of Beta-Galactosidase	Beta Galactosidase 1 Deficiency
Beta-Galactosidosis	Glb 1 Deficiency
Beta-Galactosidase-1 Deficiency	Beta-Galactosidase-1 Deficiency
Glb1 Deficiency	Landing Disease
Gangliosidosis, Gm1

Hermansky-Pudlak Syndrome 6

HPS6	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial
Delta Storage Pool Disease	Hermansky-Pudlak Syndrome, Type 6
Platelet Storage Pool Deficiency	Albinism With Hemorrhagic Diathesis And Pigmented Reticuloendothelial Cells

Mucopolysaccharidosis Iii

Sanfilippo Syndrome	Mucopolysaccharidosis Type Iii
Mucopolysaccharidosis Type 3	Mps Iii
Mpsiii	Sanfilippo Disease
Heparan Sulfate Sulfatase Deficiency	Mucopolysaccharidosis, Mps-Iii
N-Sulphoglucosamine Sulphohydrolase Deficiency	Naglu Deficiency
Sanfilippo'S Syndrome	Mucopoly-Saccharidosis Type 3
Mps3	Sanfilippos Syndrome
Mucopolysaccharidosis Type Iiia	Mps Iii B

Gangliosidosis

Gangliosidoses

Mucolipidosis

Fucosidosis

Alpha-L-Fucosidase Deficiency	Fucosidase Deficiency Disease
A-Fucosidase Deficiency	Alpha Fucosidase Deficiency
Lysosomal Storage Disease Caused By Defective Alpha-L-Fucosidase With Accumulation Of Fucose In The Tissues	Alpha-Fucosidase Deficiency
Fucosidase Deficiency	FUCA1D

Ceroid Lipofuscinosis, Neuronal, 7

CLN7	Neuronal Ceroid Lipofuscinosis 7
Cln7 Disease	Cln7 Disease, Late Infantile
Mfsd8-Related Neuronal Ceroid Lipofuscinosis	Turkish Variant Late Infantile Ncl
Lipofuscinosis, Ceroid, Neuronal, Type 7

Schwannoma Of Twelfth Cranial Nerve

Hypoglossal Schwannoma

Schwannoma Of The Twelfth Cranial Nerve

Hypoglossal Nerve Disease

Hypoglossal Nerve Diseases	Disorder Of 12th Nerve
Disorder Of Hypoglossal [12th] Nerve	Disorder Of Hypoglossal Nerve
Disorder Of Xii Nerve	Disorders Of The Twelfth Cranial Nerve
Disorders Of 12th Cranial Nerve

Mannosidosis, Alpha B, Lysosomal

Alpha-Mannosidosis	Lysosomal Alpha-D-Mannosidase Deficiency
Deficiency Of Alpha-Mannosidase	Alpha-Mannosidase B Deficiency
Mannosidosis	MANSA
Mannosidosis, Alpha-, Types I And Ii	Alpha-D-Mannosidosis
Alpha-Mannosidase Deficiency	Α-Mannosidosis
Alpha Mannosidase B Deficiency	Mannosidosis, Alpha B Lysosomal
Lysosomal Alpha B Mannosidosis	Alpha-Mannosidosis, Infantile Form
Lysosomal Alpha-D-Mannosidase Deficiency, Infantile Form	Alpha-Mannosidosis, Adult Form
Lysosomal Alpha-D-Mannosidase Deficiency, Adult Form	Alpha-Mannosidosis Types I And Ii
Mannosidase Deficiency Diseases

Gm2 Gangliosidosis

Gangliosidosis Gm2

Gangliosidoses, Gm2

C Syndrome

Opitz Trigonocephaly Syndrome	Trigonocephaly
Trigonocephaly Syndrome	Trigonocephaly C Syndrome
Opitz C Trigonocephaly	Opitz Trigonocephaly C Syndrome
Otcs	CSYN

Progressive Myoclonus Epilepsy

Pme	Progressive Myoclonic Epilepsy
Myoclonic Epilepsies, Progressive	Unverricht-Lundborg Syndrome

Mucopolysaccharidosis-Plus Syndrome

Mucopolysaccharidosis	Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
MPSPS	Mucopolysaccharidoses
Mps	Mucopolysaccharidosis-Like Plus Disease
Disorders Of Glycosaminoglycan Metabolism

Mucolipidosis Iv

Mucolipidosis Type Iv	ML4
Sialolipidosis	Mucolipidosis Type 4
Ganglioside Sialidase Deficiency	Mliv
Ml Iv	Berman Syndrome
Ganglioside Neuraminidase Deficiency	Ml 4
Mucolipidosis 4	Type Iv Mucolipidosis
Gangliosidoses

Spinocerebellar Ataxia, Autosomal Recessive 7

SCAR7	Autosomal Recessive Spinocerebellar Ataxia 7
Spinocerebellar Ataxia Autosomal Recessive 7	Childhood Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia	Autosomal Recessive Spinocerebellar Ataxia Type 7
Spinocerebellar Ataxia, Autosomal Recessive, 7	Ataxia, Spinocerebellar, Autosomal Recessive, Type 7

Glycogen Storage Disease Ii

Pompe Disease	Glycogen Storage Disease Type Ii
Acid Maltase Deficiency	Gsd Ii
Gaa Deficiency	Alpha-1,4-Glucosidase Deficiency
Glycogenosis Type Ii	GSD2
Acid Alpha-Glucosidase Deficiency	Amd
Glycogen Storage Disease, Type Ii	Pompe'S Disease
Glycogen Storage Disease Type 2	Cardiomegalia Glycogenica Diffusa
Acid Maltase Deficiency Disease	Deficiency Of Alpha-Glucosidase
Glycogenosis, Generalized, Cardiac Form	Deficiency Of Glucoamylase
Deficiency Of Maltase	Generalized Glycogenosis
Glycogenosis, Type 2	Lysosomal Alpha-1,4-Glucosidase Deficiency
Glucosidase Acid-1,4-Alpha Deficiency	Aglucosidase Alfa
Deficiency Of Lysosomal Alpha-Glucosidase	Glycogen Storage Disease Due To Acid Maltase Deficiency
Alpha-1,4-Glucosidase Acid Deficiency	Gsd Due To Acid Maltase Deficiency
Gsd Type 2	Gsd Type Ii
Glycogenosis Due To Acid Maltase Deficiency	Glycogenosis Type 2
Glycogen Storage Disease 2	Cardiomegalia Glycogenica
Glycogenosis Generalized Cardiac Form	Glycogenosis Ii
Gsd-Ii	Storage Disease, Glycogen, Type Ii
Generalized Glycogen Storage Disease Of Infants	Cardiac Form Of Generalized Glycogenosis

Sphingolipidosis

Sphingolipidoses

Tay-Sachs Disease

Hexosaminidase A Deficiency	TSD
Hexa Deficiency	Gm2 Gangliosidosis, Type 1
Hexosaminidase Alpha-Subunit Deficiency	Gm2-Gangliosidosis, Several Forms
Gm2-Gangliosidosis, B, B1, Ab Variant	B Variant Gm2 Gangliosidosis
Sphingolipidosis, Tay-Sachs	Gm2-Gangliosidosis, Type I
B Variant Gm2-Gangliosidosis	Hex A Pseudodeficiency
Hexa Disorders	Beta-Hexosaminidase A Deficiency
Gm2 Gangliosidosis, Type I	Gangliosidosis Gm2 , Type 1
Gm2 Gangliosidosis, B, B1 Variant	Gm2-Gangliosidosis 1
GM2G1	Gm2-Gangliosidosis B Variant
Tay-Sachs Disease Pseudo-Ab Variant	Tay-Sachs Disease Variant B1
Gangliosidoses, Gm2

Cystinosis

Cystine Storage Disease	Cystine Diathesis
Cystine Disease	Cystinoses
Protein Defect Of Cystin Transport	Cystin Transport, Protein Defect Of
Nephropathic Cystinosis	Protein Defect Of Cystine Transport

Cenani-Lenz Syndactyly Syndrome

Syndactyly Type 7	Cenani Syndactylism
Cenani-Lenz Syndactyly	CLSS
Syndactyly Cenani Lenz Type	Cenani-Lenz Syndrome
Syndactyly, Type Vii	Cenani-Lenz Type Syndactyly
Cenani Syndactyly	Syndactyly Type Vii

Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C	NPC1
Niemann-Pick Disease, Type D	Niemann-Pick Disease Type C1
Niemann-Pick Disease With Cholesterol Esterification Block	Niemann-Pick Disease, Subacute Juvenile Form
Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia	Npc
Niemann-Pick Disease, Chronic Neuronopathic Form	Niemann-Pick Disease Without Sphingomyelinase Deficiency
Niemann-Pick Disease Type C	Niemann-Pick Disease Type D
Niemann-Pick C1 Disease	Niemann-Pick Disease C1
Niemann-Pick Disease Chronic Neuronopathic Form	Niemann-Pick Disease Nova Scotian Type
Niemann-Pick Disease Subacute Juvenile Form	Niemann-Pick Disease Type Ii
Niemann-Picks Disease Type C

Gaucher'S Disease

Gaucher Disease	Kerasin Thesaurismosis
Glucocerebrosidase Deficiency	Glucosylceramidase Deficiency
Cerebroside Lipidosis Syndrome	Acid Beta-Glucosidase Deficiency
Glucosylceramide Beta-Glucosidase Deficiency	Acute Cerebral Gaucher Disease
Gaucher Splenomegaly	Glucocerebrosidosis
Glucosyl Cerebroside Lipidosis	Kerasin Lipoidosis
Lipoid Histiocytosis	Glocucerebrosidase Deficiency
Sphingolipidosis 1	Gaucher Syndrome
Gauchers Disease	Gd
Glucosylceramide Lipidosis	Kerasin Histiocytosis
Gaucher Disease, Type 1	Gaucher Disease, Type 2

Metachromatic Leukodystrophy

Arylsulfatase A Deficiency	MLD
Arsa Deficiency	Sulfatide Lipidosis
Metachromatic Leukoencephalopathy	Cerebral Sclerosis, Diffuse, Metachromatic Form
Cerebroside Sulfatase Deficiency	Leukodystrophy, Metachromatic
Pseudoarylsulfatase A Deficiency	Leukodystrophy Metachromatic
Sulfatidosis	Metachromatic Leukodystrophy, Late Infantile
Metachromatic Leukodystrophy Variant	Deficiency Of Cerebroside-Sulfatase
Scholz Cerebral Sclerosis	Sulfatide Lipoidosis
Cerebral Sclerosis Diffuse Metachromatic Form	Arylsulfatase A Deficiency Disease
Cerebroside Sulphatase Deficiency Disease	Greenfield Disease
Metachromatic Leukodystrophy, Adult	Metachromatic Leukodystrophy, Juvenile
Leukodystrophy Metachromatic Adult	Leukodystrophy Metachromatic Juvenile
Leukodystrophy Metachromatic Late Infantile	Metachromatic Leukodystrophy, Adult Type
Metachromatic Leukodystrophy, Juvenile Type	Metachromatic Leukodystrophy, Infant
Greenfield'S Disease

Niemann-Pick Disease

Sphingomyelin/Cholesterol Lipidosis	Niemann-Pick Diseases
Lipoid Histiocytosis	Sphingomyelin Lipidosis
Sphingomyelinase Deficiency Disease	Lipid Histiocytosis
Neuronal Cholesterol Lipidosis	Neuronal Lipidosis
Npd	Sphingomyelinase Deficiency
Niemann-Pick Disease, Type A

Stargardt Disease

Stargardt Disease 1	Stargardt Macular Dystrophy
Stargardt Disease-1	Juvenile Onset Macular Degeneration
Stargardt Macular Degeneration	Juvenile Macular Degeneration
Macular Dystrophy With Flecks, Type 1	Stgd
Fundus Flavimaculatus	Stargardt 1
Stargardts Disease

Early Myoclonic Encephalopathy

Myoclonic Epilepsy	Myoclonic Seizure
Epilepsies, Myoclonic	Epileptic Seizures - Myoclonic
Epileptic Seizures, Myoclonic	Myoclonia Epileptica
Myoclonic Seizure Disorder	Early Myoclonic Encephalopathy With Suppression-Bursts

Peroxisome Biogenesis Disorder 1b

Peroxisome Biogenesis Disorder	Infantile Refsum Disease
Infantile Phytanic Acid Storage Disease	PBD1B
Refsum Disease, Infantile	Adrenoleukodystrophy, Autosomal Neonatal
Ird	Mild Pbd-Zsd
Mild Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder	Pbd-Zsd
Peroxisome Biogenesis Disorder Spectrum	Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Autosomal Neonatal Adrenoleukodystrophy	Refsum Disease Infantile
Peroxisome Biogenesis Disorders	Peroxisome Biogenesis Disorder, Type 1b

Eye Disease

Eye Diseases	Abnormality Of The Eye
Toxoplasma Oculopathy

Leber Plus Disease

Leber Congenital Amaurosis	Lca
Leber'S Amaurosis	Leber'S Disease
Amaurosis Congenita Of Leber	Amaurosis Congenita Of Leber, Type 1
Lhon Plus Disease	Congenital Absence Of The Rods And Cones
Congenital Retinal Blindness	Crb
Congenital Amaurosis Of Retinal Origin	Leber'S Congenital Amaurosis
Leber Congenital Amaurosis 1	Leber'S Congenital Tapetoretinal Degeneration
Leber'S Congenital Tapetoretinal Dysplasia	Lca1
Leber Congenital Amaurosis Type 1	Retinal Blindness, Congenital
Amaurosis, Leber Congenital	Dysgenesis Neuroepithelialis Retinae
Hereditary Epithelial Dysplasia Of Retina	Hereditary Retinal Aplasia
Heredoretinopathia Congenitalis	Leber Abiotrophy
Leber Congenital Tapetoretinal Degeneration	Lebers Congenital Amaurosis
Optic Atrophy, Hereditary, Leber

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02822	CLN3 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	CLN3	RGD	RGD:1359537
Mus musculus	CLN3	MGD	MGI:107537