DISEASES

Disease-gene associations mined from literature

Literature associating CYP8B1 and progressive familial intrahepatic cholestasis 3

CYP8B1 [ENSP00000318867]

7-alpha-hydroxycholest-4-en-3-one 12-alpha-hydroxylase; Involved in bile acid synthesis and is responsible for the conversion of 7 alpha-hydroxy-4-cholesten-3-one into 7 alpha, 12 alpha- dihydroxy-4-cholesten-3-one. Responsible for the balance between formation of cholic acid and chenodeoxycholic acid. Has a rather broad substrate specificity including a number of 7-alpha-hydroxylated C27 steroids.

Synonyms:  CYP8B1,  CYP8B1p,  hCYP8B1,  C9JFR9,  Q9UNU6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM