B3GALT6 - beta-1,3-galactosyltransferase 6 Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 126792

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	References	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	References	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	References	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

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01306	B3GALT6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19501	B3gnt2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	B3GALT6	NCBI