B4GALT3
beta-1,4-galactosyltransferase 3
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]
Known Variants16 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs144909171 | 1:161,141,626 | C/A | — | uncertain significance |
| rs764183520 | 1:161,141,671 | G/A | — | uncertain significance |
| rs374982935 | 1:161,141,697 | G/A | — | uncertain significance |
| rs146478151 | 1:161,141,712 | G/C | — | uncertain significance |
| rs950219674 | 1:161,141,769 | G/A | — | uncertain significance |
| rs774403075 | 1:161,142,084 | T/C | — | uncertain significance |
| rs149349892 | 1:161,143,440 | T/C | — | uncertain significance |
| rs2525452176 | 1:161,143,471 | C/T | — | uncertain significance |
| rs199539404 | 1:161,143,685 | C/T | — | uncertain significance |
| rs776713363 | 1:161,143,695 | G/A | — | uncertain significance |
| rs775377955 | 1:161,144,856 | C/T | — | uncertain significance |
| rs753814352 | 1:161,144,872 | G/A | — | uncertain significance |
| rs2525516826 | 1:161,145,649 | G/A | — | uncertain significance |
| rs770821883 | 1:161,145,732 | C/T | — | uncertain significance |
| rs201140014 | 1:161,145,834 | A/G | — | uncertain significance |
| rs565513287 | 1:161,149,386 | G/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.