1. Gene
  2. B3GAT3 - beta-1,3-glucuronyltransferase 3 Gene

B3GAT3 - beta-1,3-glucuronyltransferase 3 Gene

Homo sapiens

Also known as JDSCD; GLCATI; glcUAT-I

Gene ID: 26229 | Gene type: protein coding

About B3GAT3

Cytogenetic location: 11q12.3 Genomic coordinates (GRCh38): 11:62,615,296-62,621,986 (from NCBI)

This gene has 6 transcripts (splice variants), 193 orthologues, 2 paralogues and is associated with 3 phenotypes. Ubiquitous expression in brain (RPKM 10.1), lymph node (RPKM 9.2) and 25 other tissues.

Summary

The protein encoded by this gene is a member of the glucuronyltransferase gene family, enzymes that exhibit strict acceptor specificity, recognizing nonreducing terminal sugars and their anomeric linkages. This gene product catalyzes the formation of the glycosaminoglycan-protein linkage by way of a glucuronyl transfer reaction in the final step of the biosynthesis of the linkage region of proteoglycans. A pseudogene of this gene has been identified on chromosome 3. [provided by RefSeq, Dec 2013]

B3GAT3 Products(4)

mRNA Protein Name
NM_001288721.2 NP_001275650.1 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 isoform 2
NM_001288722.2 NP_001275651.1 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 isoform 3
NM_001288723.2 NP_001275652.1 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 isoform 4
NM_012200.4 NP_036332.2 galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3 isoform 1

B3GAT3 Protein Structure

Glyco_transf_43

Glyco_transf_43: Glycosyltransferase family 43 (96 - 313)

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  • 335 a.a.
Protein Preferred Names Protein Names

galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3

Sqv-8-like protein

Recombinant B3GAT3 Proteins

Cat. No. Product Name Accession Purity
HY-P7626 B3GAT3 Protein, Human (His) O94766 (E72-V335) ≥95%
HY-P700269 B3GAT3 Protein, Human (N-His) NP_036332.2 (E72-V335) ≥95%

Related Diseases

Diseases Alias
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects

JDSCD

Larsen Syndrome, Autosomal Recessive, Formerly

Multiple Joint Dislocations, Short Stature, Craniofacial Dysmorphism, With Or Without Congenital Heart Defects

Autosomal Recessive Larsen Syndrome

Larsen-Like Syndrome

Larsen-Like Syndrome B3gat3 Type

Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism Without Congenital Heart Defects

Larsen Syndrome, Recessive Type

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

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

Pseudodiastrophic Dysplasia

PDD

Pseudodiastrophic Dwarfism

Desbuquois Dysplasia

Desbuquois Syndrome

Micromelic Dwarfism With Vertebral And Metaphyseal Abnormalities And Advanced Carpotarsal Ossification

Dysplasia, Desbuquois

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

Larsen Syndrome

LRS

Larsen Syndrome, Dominant Type

Dominant Larsen Syndrome

Autosomal Dominant Larsen Syndrome

Larsens Syndrome

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

Radioulnar Synostosis

Radio-Ulnar Synostosis Type 1

Temtamy Preaxial Brachydactyly Syndrome

Preaxial Brachydactyly Syndrome, Temtamy Type

TPBS

Intellectual Disability Syndrome With Preaxial Brachydactyly, Hyperphalangism, Deafness And Orodental Anomalies

Preaxial Brachydactyly Syndrome Temtamy Type

Loeys-Dietz Syndrome 5

Rienhoff Syndrome

LDS5

Rnhf

Reinhoff Syndrome

Loeys-Dietz Syndrome, Type 5

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

Geroderma Osteodysplasticum

Gerodermia Osteodysplastica

Geroderma Osteodysplastica

GO

Walt Disney Dwarfism

Type Of Gerodermia Osteodysplastica

Loeys-Dietz Syndrome 4

LDS4

Aneurysm, Aortic And Cerebral, With Arterial Tortuosity And Skeletal Manifestations

Loeys-Dietz Syndrome Type 4

Aortic And Cerebral Aneurysm With Arterial Tortuosity And Skeletal Manifestations

Loeys-Dietz Syndrome, Type 4

Orthostatic Intolerance

Mitral Valve Prolapse

Neurocirculatory Asthenia

Mitral Valve Prolapse Syndrome

Irritable Heart

Systolic Click-Murmur Syndrome

Soldiers Heart

Cardiovascular Malfunction Arising From Mental Factors

Cardiovascular Neurosis

Da Costa'S Syndrome

Krishaber'S Disease

Barlow'S Syndrome

Floppy Mitral Valve

Mitral Leaflet Syndrome

Myxomatous Mitral Valve Prolapse

Postural Orthostatic Tachycardia Syndrome Due To Net Deficiency

Familial Orthostatic Tachycardia Due To Norepinephrine Transporter Deficiency

Orthostatic Intolerance Due To Net Deficiency

Pots Due To Net Deficiency

OI

Intolerance, Orthostatic

Mitral Valve Prolapse, Familial, X-Linked

Ballooning Mitral Valve

Barlow Syndrome

Flail Mitral Leaflet

Myxomatous Mitral Valve

Mitral Valve Prolapse-Click Syndrome

Prolapsing Mitral Valve Leaflet Syndrome

Billowing Mitral Valve Leaflet

Posterior Mitral Leaflet Deformity

Ballooning Posterior Leaflet Syndrome

Blue Valve Syndrome

Floppy Mitral Valve Syndrome

Mitral Valvular Prolapse

Systolic Click Syndrome

Ehlers-Danlos Syndrome

Eds

Cutis Hyperelastica

Elastic Skin

Ehlers-Danlos Syndromes

Ed Syndrome

Ehlers Danlos Syndrome

Ehlers Danlos Disease

Eds - [Ehlers-Danlos Syndrome]

Diaphragmatic Hernia, Congenital

Congenital Diaphragmatic Hernia

Diaphragmatic Hernia

Cdh

Congenital Diaphragmatic Defect

Hernia, Diaphragmatic

Dih

Hernia, Congenital Diaphragmatic

Hcd

Diaphragmatic Defect, Congenital

Diaphragm, Unilateral Agenesis Of

Hemidiaphragm, Agenesis Of

Diaphragmatic Hernia 1

Agenesis Of Hemidiaphragm

Unilateral Agenesis Of Diaphragm

Hernia Diaphragmatic

Hernia Diaphragmatic Congenital

Hernia, Diaphragmatic, Type 1

Hiatus Hernia

Oesophageal Hiatus Hernia

Paraoesophageal Hernia

Sliding Hiatus Hernia

Congenital Diaphragm Hernia

Congenital Diaphragm Defect With Hernia

Gross Congenital Diaphragm Defect

Osteochondrodysplasia

Skeletal Dysplasia

Chondrodystrophy

Congenital Anomaly Of Cartilage

Osteochondrodysplasias

Cartilage Development Disorder

Osteochondrodysplasia Syndrome

Dysplasia, Skeletal

Mucopolysaccharidosis Iv

Patent Foramen Ovale

Atrial Septal Defect Within Oval Fossa

Foramen Ovale Patent

Ostium Secundum Atrial Septal Defect

Atrial Septal Defect, Ostium Secundum Type

Foramen Ovale, Patent

Defect, Patent Or Persistent, Ostium Secundum

Ostium Secundum Type Atrial Septal Defect

Persistent Ostium Secundum

Asd Ostium Secundum Type

Ostium Secundum Asd

Osasd

Asd, Ostium Secundum Type

Pfo - [Patent Foramen Ovale]

Open Foramen Ovale

Open Oval Foramen

Persistent Foramen Ovale

Secundum Atrial Septal Defect

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

Orthologs Information

Species Symbol Source ID
Felis catus B3GAT3 VGNC VGNC:68973
Rattus norvegicus B3GAT3 RGD RGD:1311968
Bos taurus B3GAT3 VGNC VGNC:26378
Macaca mulatta B3GAT3 VGNC VGNC:70208
Mus musculus B3GAT3 MGD MGI:1919977
Canis familiaris B3GAT3 VGNC VGNC:38339
Others B3GAT3 NCBI