DISEASES

Disease-gene associations mined from literature

Literature associating UGT1A1 and choledocholithiasis

UGT1A1 [ENSP00000362549]

UDP glucuronosyltransferase 1 family, polypeptide A1; 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.

Synonyms:  UGT1A1,  UGT1A1p,  hUGT1A1,  UGT1A8,  Q5DSZ6 ...

Linkouts:  STRING  Pharos  UniProt