Details for Gene B4GAT1

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

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