Disease-gene associations mined from literature

Literature associating B3GNT5 and salt and pepper syndrome

B3GNT5 [ENSP00000316173]

UDP-GlcNAc:beta-Gal beta-1,3-N-acetylglucosaminyltransferase 5; Beta-1,3-N-acetylglucosaminyltransferase that plays a key role in the synthesis of lacto- or neolacto-series carbohydrate chains on glycolipids, notably by participating in biosynthesis of HNK-1 and Lewis X carbohydrate structures. Has strong activity toward lactosylceramide (LacCer) and neolactotetraosylceramide (nLc(4)Cer; paragloboside), resulting in the synthesis of Lc(3)Cer and neolactopentaosylceramide (nLc(5)Cer), respectively. Probably plays a central role in regulating neolacto-series glycolipid synthesis during embryonic development; Belongs to the glycosyltransferase 31 family.

Synonyms:  B3GNT5,  B3GNT5p,  hB3GNT5,  C9IYY0,  C9J368 ...

Linkouts:  STRING  Pharos  UniProt  OMIM