DISEASES

Disease-gene associations mined from literature

Literature associating UGT1A8 and Crigler-Najjar syndrome

UGT1A8 [ENSP00000304845]

UDP glucuronosyltransferase 1 family, polypeptide A8; UDPGT is of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This isoform glucuronidates bilirubin IX- alpha to form both the IX-alpha-C8 and IX-alpha-C12 monoconjugates and diconjugate. Is also able to catalyze the glucuronidation of 17beta-estradiol, 17alpha-ethinylestradiol, 1-hydroxypyrene, 4- methylumbelliferone, 1-naphthol, paranitrophenol, scopoletin, and umbelliferone. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1; Belongs to the UDP-glycosyltransferase family.

Synonyms:  UGT1A8,  UGT1A1,  UGT1A8p,  hUGT1A8,  P22309 ...

Linkouts:  STRING  Pharos  UniProt