B3GALT6 - beta-1,3-galactosyltransferase 6 Gene

Homo sapiens

Also known as ALGAZ; EDSP2; EDSSPD2; SEMDJL1; beta3GalT6

Gene ID: 126792 | Gene type: protein coding

About B3GALT6

Cytogenetic location: 1p36.33 Genomic coordinates (GRCh38): 1:1,232,237-1,235,041 (from NCBI)

This gene has 1 transcript (splice variant), 168 orthologues, 15 paralogues and is associated with 7 phenotypes.

Summary

The Enzyme encoded by this intronless gene is a beta-1,3-galactosyltransferase found in the medial Golgi apparatus, where it catalyzes the transfer of galactose from UDP-galactose to substrates containing a terminal beta-linked galactose moiety. The encoded Enzyme has a particular affinity for galactose-beta-1,4-xylose found in the linker region of glycosamines. This Enzyme is required for glycosaminoglycan synthesis. [provided by RefSeq, Jun 2013]

B3GALT6 Products(1)

mRNA	Protein	Name
NM_080605.4	NP_542172.2	beta-1,3-galactosyltransferase 6

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables UDP-galactosyltransferase activity	IDA IDA: Inferred from direct assay	11551958	GOA
enables galactosylxylosylprotein 3-beta-galactosyltransferase activity	IMP IMP: Inferred from mutant phenotype	29443383	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in glycosaminoglycan biosynthetic process	IMP IMP: Inferred from mutant phenotype	11551958	GOA
involved in proteoglycan biosynthetic process	IMP IMP: Inferred from mutant phenotype	29443383	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in Golgi apparatus	IMP IMP: Inferred from mutant phenotype	29443383	GOA
located in Golgi medial cisterna	IDA IDA: Inferred from direct assay	11551958	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

B3GALT6 Protein Structure

Galactosyl_T

0
100
200
300
329 a.a.

Protein Preferred Names

Protein Names

beta-1,3-galactosyltransferase 6

GAG GalTII

Related Diseases

Diseases

Alias

Al-Gazali Syndrome

ALGAZ	Al Gazali Syndrome
Al Gazali Al Talabani Syndrome	Eye Defects Arachnodactyly Cardiopathy
Eye Defects-Arachnodactyly-Cardiopathy Syndrome	Al Gazali-Al Talabani Syndrome
Al Gazali-Lytle Syndrome

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

Ehlers-Danlos Syndrome Progeroid Type	Ehlers-Danlos Syndrome, Progeroid Type, 2
EDSSPD2	Ehlers-Danlos Syndrome Spondylodysplastic Type 2
Ehlers-Danlos Syndrome, Progeroid Type, 2, Formerly	Edsp2, Formerly
Defective Biosynthesis Of Proteodermatan Sulfate	Xgpt Deficiency
Xylosylprotein 4-Beta-Galactosyltransferase Deficiency	B3galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
B3galt6-Related Speds	B3galt6-Related Spondylodysplastic Eds
Beta3galt6-Deficient Eds	Ehlers-Danlos Syndrome Progeroid Type 2
Speds-B3galt6	Edsp2
Ehlers-Danlos, Spondylodysplastic Syndrome, Type 2	Ehlers-Danlos Syndrome, Progeroid Form

Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures

SEMDJL1	Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1
Semdjl	Spondyloepimetaphyseal Dysplasia With Joint Laxity, 1, With Or Without Fractures
Semdjl-Beighton Type	Spondyloepimetaphyseal Dysplasia With Joint Laxity Beighton Type

Spondyloepimetaphyseal Dysplasia With Joint Laxity

Dysplasia, Spondyloepimetaphyseal, With Joint Laxity	Semdjl
Spondyloepimetaphyseal Dysplasia Joint Laxity	Semd-Jl
Semdjl1	Spondyloepimetaphyseal Dysplasia With Joint Laxity Type 1
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Beighton Type

Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations

Spondyloepiphyseal Dysplasia	Chst3-Related Skeletal Dysplasia
Humerospinal Dysostosis	Spondyloepiphyseal Dysplasia, Omani Type
Chondrodysplasia With Multiple Dislocations	SEDCJD
Hsd	Cdmd
Humero-Spinal Dysostosis	Kozlowski Celermajer Tink Syndrome
Chondrodysplasia With Congenital Joint Dislocations, Chst3 Type	Larsen Syndrome, Recessive Type
Humero-Spinal Dysostosis With Congenital Heart Disease	Omani Type
Sed	Chst3 Deficiency
Chst3-Related Dysplasia	Recessive Larsen Syndrome
Autosomal Recessive Larsen Syndrome	Sed With Luxations, Chst3 Type
Sed, Omani Type	Sdcd, Chst3 Type
Spondyloepiphyseal Dysplasia With Congenital Joint Dyslocations, Chst3 Type	Sed Omani Type
Spondyloepiphyseal Dysplasia Omani Type	Larsen Syndrome, Autosomal Recessive
Mucopolysaccharidosis Iv	Spondyloepiphyseal Dysplasia, Congenita

Spondyloepimetaphyseal Dysplasia

Dysplasia, Spondyloepimetaphyseal

Ehlers-Danlos Syndrome

Eds	Cutis Hyperelastica
Elastic Skin	Ehlers-Danlos Syndromes
Ed Syndrome	Ehlers Danlos Syndrome
Ehlers Danlos Disease	Eds - [Ehlers-Danlos Syndrome]

Desbuquois Dysplasia

Desbuquois Syndrome	Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification
Dysplasia, Desbuquois

Talipes Equinovarus

Congenital Equinovarus	Congenital Talipes Equinovarus
Equinovarus	Congenital Varus Clubfoot

Larsen-Like Syndrome B3gat3 Type

Larsen-Like Syndrome, B3gat3 Type	Multiple Joint Dislocations-Short Stature-Craniofacial Dysmorphism-Congenital Heart Defects Syndrome
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Congenital Heart Defects	Joint Dislocations, Multiple, Short Stature, Craniofacial Dysmorphism, Congenital Heart Defects

Radioulnar Synostosis

Radio-Ulnar Synostosis Type 1

Perinephritis

Collagen Disease

Collagen Diseases

Collagen Disorder

Caspase 8 Deficiency

Autoimmune Lymphoproliferative Syndrome Type 2b	Caspase-8 Deficiency
Ceds	Alps2b
Autoimmune Lymphoproliferative Syndrome, Type Iib	Alps With Recurrent Viral Infections
Autoimmune Lymphoproliferative Syndrome With Recurrent Viral Infections	Caspase 8 Deficiency Syndrome
Caspase 8 Lymphadenopathy Syndrome	Autoimmune Lymphoproliferative Syndrome Type Iib
Caspase Eight Deficiency State	CASP8D

Bone Disease

Bone Diseases	Skeletal Disease
Skeletal Disorder	Disorder Of Skeletal System

Larsen Syndrome

LRS	Larsen Syndrome, Dominant Type
Dominant Larsen Syndrome	Autosomal Dominant Larsen Syndrome
Larsens Syndrome

Geroderma Osteodysplasticum

Gerodermia Osteodysplastica	Geroderma Osteodysplastica
GO	Walt Disney Dwarfism
Type Of Gerodermia Osteodysplastica

Heart Disease

Heart Failure	Congenital Heart Disease
Heart Diseases	Congenital Heart Defects
Congenital Heart Defect	Heart Malformation
Congenital Anomaly Of Heart	Heart Defect
Heart-Congenital Defect	Congenital Heart Disorder
Heart Defects Congenital	Heart Defects, Congenital
Heart Defects	Heart Disease, Congenital
Disease, Heart, Congenital	Congestive Heart Failure

Osteochondrodysplasia

Skeletal Dysplasia	Chondrodystrophy
Congenital Anomaly Of Cartilage	Osteochondrodysplasias
Cartilage Development Disorder	Osteochondrodysplasia Syndrome
Dysplasia, Skeletal	Mucopolysaccharidosis Iv

Chromosome 1p36 Deletion Syndrome

1p36 Deletion Syndrome	Deletion 1p36
Monosomy 1p36	Subtelomeric 1p36 Deletion
Monosomy 1p36 Syndrome	Distal Monosomy 1p36
Del(1)(P36)	Deletion 1pter
Monosomy 1pter

Brittle Bone Disorder

Osteogenesis Imperfecta	Brittle Bone Disease
Fragilitas Ossium	Osteopsathyrosis
Lobstein Disease	Oi
Vrolik Disease	Lobstein'S Disease
Lobstein'S Syndrome	Vrolik'S Disease
Porak And Durante Disease	Glass Bone Disease
Osteogenesis Imperfecta, Dominant Perinatal Lethal	Osteogenesis Imperfecta, Recessive Perinatal Lethal
Brittle Bone Syndrome	Oi - [Osteogenesis Imperfecta]
Ossium Fragility	Osteitis Fragilitans
Bony Fragility	Blue Sclera With Fragility Of Bone And Deafness
White Blue Sclera - Fragility Of Bone - Deafness

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01306	B3GALT6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	B3GALT6	RGD	RGD:1309558
Bos taurus	B3GALT6	VGNC	VGNC:26375
Macaca mulatta	B3GALT6	VGNC	VGNC:70088
Mus musculus	B3GALT6	MGD	MGI:2152819
Canis familiaris	B3GALT6	VGNC	VGNC:53266
Felis catus	B3GALT6	VGNC	VGNC:107490

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