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  2. B4GALT4 - beta-1,4-galactosyltransferase 4 Gene

B4GALT4 - beta-1,4-galactosyltransferase 4 Gene

Homo sapiens

Also known as B4Gal-T4; beta4Gal-T4

Gene ID: 8702 | Gene type: protein coding

About B4GALT4

Cytogenetic location: 3q13.32 Genomic coordinates (GRCh38): 3:119,211,742-119,240,878 (from NCBI)

This gene has 20 transcripts (splice variants), 233 orthologues and 6 paralogues. Ubiquitous expression in gall bladder (RPKM 16.8), colon (RPKM 15.3) and 25 other tissues.

Summary

This gene is one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The Enzyme encoded by this gene appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

B4GALT4 Products(2)

mRNA Protein Name
NM_003778.4 NP_003769.1 beta-1,4-galactosyltransferase 4
NM_212543.2 NP_997708.1 beta-1,4-galactosyltransferase 4

B4GALT4 Protein Structure

Glyco_transf_7N

Glyco_transf_7N: N-terminal region of glycosyl transferase group 7 (77 - 210)

Glyco_transf_7C

Glyco_transf_7C: N-terminal domain of galactosyltransferase (214 - 289)

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  • 344 a.a.
Protein Preferred Names Protein Names

beta-1,4-galactosyltransferase 4

N-acetyllactosamine synthase

Recombinant B4GALT4 Proteins

Cat. No. Product Name Accession Purity
HY-P7630 B4GALT4 Protein, Human (HEK293, His) O60513 (Q39-A344) ≥95%

Related Diseases

Diseases Alias
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

Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1

Xylosylprotein 4-Beta-Galactosyltransferase Deficiency

Xgpt Deficiency

EDSSPD1

Ehlers-Danlos Syndrome With Short Stature And Limb Anomalies

Edssla

Proteodermatan Sulfate, Defective Biosynthesis Of

Pds, Defective Biosynthesis Of

Dermatan Sulfate Proteoglycan

Galactosyltransferase I Deficiency

Ehlers-Danlos Syndrome Spondylodysplastic Type 1

Spondylodysplastic Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome, Progeroid Type, 1, Formerly

Edsp1, Formerly

Ehlers-Danlos Syndrome, Progeroid Type

Galactosyltransferase 1 Deficiency

Spondylodysplastic Eds

Speds

Defective Biosynthesis Of Pds

Defective Biosynthesis Of Proteodermatan Sulfate

Edsp1

Ehlers-Danlos Syndrome, Progeroid Type, 1

Proteodermatan Sulfate Defective Biosynthesis Of

Ehlers-Danlos, Spondylodysplastic Syndrome

Ehlers-Danlos Syndrome, Progeroid Form

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
Canis familiaris B4GALT4 VGNC VGNC:38352
Macaca mulatta B4GALT4 VGNC VGNC:70211
Felis catus B4GALT4 VGNC VGNC:68990
Mus musculus B4GALT4 MGD MGI:1928387
Rattus norvegicus B4GALT4 RGD RGD:1307880
Bos taurus B4GALT4 VGNC VGNC:26391
Others B4GALT4 NCBI