GENE NAME | B4GAT1 |
CHROMOSOME | 11 |
ENSEMBL ID | ENSG00000174684 |
ENTREZ ID | 11041 |
UNIPROT ACCESSION NUMBER | O43505 |
GO MOLECULAR FUNCTION | glycosyltransferase activity; transferase activity; N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity; glucuronosyltransferase activity; metal ion binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-1643685; hsa00515; R-HSA-3781865; R-HSA-597592; R-HSA-5173105; R-HSA-392499; R-HSA-2022854; R-HSA-5668914; R-HSA-1638074; R-HSA-5083627; R-HSA-1630316; R-HSA-3906995; R-HSA-71387; R-HSA-1430728; hsa01100 |
4 combinations linked to B4GAT1 | OLI861; OLI904; OLI908; OLI909 |
2 variants linked to B4GAT1 | B4GAT1:c.152C>T, p.Pro51Leu; B4GAT1:c.355C>A, p.Pro119Thr |
2 diseases linked to B4GAT1 | Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome |