Disease-gene associations mined from literature

Literature associating UGT8 and retinitis pigmentosa 19

UGT8 [ENSP00000311648]

2-hydroxyacylsphingosine 1-beta-galactosyltransferase; Catalyzes the transfer of galactose to ceramide, a key enzymatic step in the biosynthesis of galactocerebrosides, which are abundant sphingolipids of the myelin membrane of the central nervous system and peripheral nervous system; Belongs to the UDP-glycosyltransferase family.

Synonyms:  UGT8,  UGT8p,  hUGT8,  D6RFW2,  Q16880 ...

Linkouts:  STRING  Pharos  UniProt  OMIM