DISEASES

Disease-gene associations mined from literature

Literature associating CYP51A1 and Antley-Bixler syndrome

CYP51A1 [ENSP00000003100]

Cytochrome P450, family 51, subfamily A, polypeptide 1; Catalyzes C14-demethylation of lanosterol; it transforms lanosterol into 4,4'-dimethyl cholesta-8,14,24-triene-3-beta-ol; Cytochrome P450 family 51

Synonyms:  CYP51A1,  CYP51A1p,  hCYP51A1,  C9IYR8,  CYP51A1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM