Structural highlights
Disease
CP11A_HUMAN Inherited isolated adrenal insufficiency due to CYP11A1 deficiency;46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency. The disease is caused by mutations affecting the gene represented in this entry.
Function
CP11A_HUMAN Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone.[1]
See Also
References
- ↑ Strushkevich N, Mackenzie F, Cherkesova T, Grabovec I, Usanov S, Park HW. Structural basis for pregnenolone biosynthesis by the mitochondrial monooxygenase system. Proc Natl Acad Sci U S A. 2011 Jun 2. PMID:21636783 doi:10.1073/pnas.1019441108
