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  2. B4GALT3 - beta-1,4-galactosyltransferase 3 Gene

B4GALT3 - beta-1,4-galactosyltransferase 3 Gene

Homo sapiens

Also known as beta4Gal-T3

Gene ID: 8703 | Gene type: protein coding

About B4GALT3

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:161,171,310-161,177,968 (from NCBI)

This gene has 13 transcripts (splice variants), 229 orthologues and 6 paralogues. Ubiquitous expression in placenta (RPKM 11.2), testis (RPKM 11.2) 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. This gene encodes an Enzyme that may be mainly involved in the synthesis of the first N-acetyllactosamine unit of poly-N-acetyllactosamine chains. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Dec 2010]

B4GALT3 Products(3)

mRNA Protein Name
NM_001199873.1 NP_001186802.1 beta-1,4-galactosyltransferase 3
NM_001199874.1 NP_001186803.1 beta-1,4-galactosyltransferase 3
NM_003779.4 NP_003770.1 beta-1,4-galactosyltransferase 3

B4GALT3 Protein Structure

Glyco_transf_7N

Glyco_transf_7N: N-terminal region of glycosyl transferase group 7 (77 - 212)

Glyco_transf_7C

Glyco_transf_7C: N-terminal domain of galactosyltransferase (215 - 292)

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  • 393 a.a.
Protein Preferred Names Protein Names

beta-1,4-galactosyltransferase 3

N-acetyllactosamine synthase

Recombinant B4GALT3 Proteins

Cat. No. Product Name Accession Purity
HY-P7629 B4GALT3 Protein, Human (HEK293, His) O60512 (R32-S392) ≥95%

Related Diseases

Diseases Alias
Charcot-Marie-Tooth Disease, Axonal, Type 2z

CMT2Z

Charcot-Marie-Tooth Disease Axonal Type 2z

Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2z

Charcot-Marie-Tooth Neuropathy, Type 2z

Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Type 2z

Charcot-Marie-Tooth Neuropathy Type 2z

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2z

Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Morc2 Mutation

Charcot-Marie-Tooth Disease 2z

Charcot-Marie-Tooth Disease, Type 2z

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 B4GALT3 VGNC VGNC:68988
Rattus norvegicus B4GALT3 RGD RGD:1359221
Canis familiaris B4GALT3 VGNC VGNC:38351
Macaca mulatta B4GALT3 VGNC VGNC:70210
Mus musculus B4GALT3 MGD MGI:1928767
Bos taurus B4GALT3 VGNC VGNC:26390
Others B4GALT3 NCBI