Disease-gene associations mined from literature

Literature associating CYP27A1 and lipid storage disease

CYP27A1 [ENSP00000258415]

5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 27-hydroxylase; Catalyzes the first step in the oxidation of the side chain of sterol intermediates; the 27-hydroxylation of 5-beta- cholestane-3-alpha,7-alpha,12-alpha-triol. Has also a vitamin D3- 25-hydroxylase activity; Belongs to the cytochrome P450 family.

Synonyms:  CYP27A1,  CYP27A1p,  hCYP27A1,  C9J1K5,  F8WD90 ...

Linkouts:  STRING  Pharos  UniProt  OMIM