Reaction: Defective CYP11B1 does not oxidise 11DCORT
- in pathway: Defective CYP11B1 causes AH4
Cytochrome P450 11B1, mitochondrial (CYP11B1) usually hydroxylates 11-deoxycortisol (11DCORT) to form cortisol (CORT). Defects in CYP11B1 can cause Adrenal hyperplasia 4 (AH4; MIM:202010), a form of congenital adrenal hyperplasia (White et al. 1991, Zhao et al. 2008). Common mutations causing AH4 are mostly located in exons 6, 7, and 8 and include R448H, R448C, A331V, E371G, T318M and R374Q (White et al. 1991, Geley et al. 1996, Curnow et al. 1993).
Reaction - small molecule participants:
O2 [mitochondrial matrix]
11DCORT [mitochondrial matrix]
H+ [mitochondrial matrix]
NADPH [mitochondrial matrix]
Reactome.org reaction link: R-HSA-5580292
======
Reaction input - small molecules:
dioxygen
11-deoxycortisol
hydron
NADPH
Reaction output - small molecules:
Reactome.org link: R-HSA-5580292