Disease-gene associations mined from literature

Literature associating CYP8B1 and bile duct disease

CYP8B1 [ENSP00000318867]

7-alpha-hydroxy-4-cholesten-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; Cytochrome P450 family 8

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

Linkouts:  STRING  Pharos  UniProt  OMIM