DISEASES

Disease-gene associations mined from literature

Literature associating UGT1A4 and Crigler-Najjar syndrome

UGT1A4 [ENSP00000362508]

UDP glucuronosyltransferase 1 family, polypeptide A4; 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. Isoform 2 lacks transferase activity but acts as a negative regulator of isoform 1 (By similarity).

Synonyms:  UGT1A4,  UGT1A4p,  hUGT1A4,  B8K2E8,  P22310 ...

Linkouts:  STRING  Pharos  UniProt  OMIM