Disease-gene associations mined from literature

Literature associating CYP46A1 and C syndrome

CYP46A1 [ENSP00000261835]

Cytochrome P450, family 46, subfamily A, polypeptide 1; Involved in the turnover of cholesterol. It converts cholesterol into 24S-hydroxycholesterol and, to a lesser extent, 25-hydroxycholesterol. Has also activity with xenobiotic compounds, such as clotrimazole; Cytochrome P450 family 46

Synonyms:  CYP46A1,  CYP46A1p,  hCYP46A1,  CYP46A1-001,  CYP46A1-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM