Literature associating B3GNT5 and salt and pepper syndrome
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 ...