Defective CYP11B1 does not oxidise 11DCORT

Stable Identifier
Reaction [transition]
Homo sapiens
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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).

Literature References
PubMed ID Title Journal Year
8506298 Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8

New, MI, Speiser, PW, Pascoe, L, White, PC, Cole, T, Curnow, KM, Vitek, J, Slutsker, L

Proc. Natl. Acad. Sci. U.S.A. 1993
1594605 Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency

Rösler, A, Pascoe, L, White, PC, Curnow, KM, Slutsker, L

Proc. Natl. Acad. Sci. U.S.A. 1992
18661760 Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency

Tian, HM, Zhao, LQ, Han, S

World J Pediatr 2008
2022736 A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin

Rösler, A, New, MI, White, PC, Leiberman, E, Hochberg, Z, Dupont, J

J. Clin. Invest. 1991
8768848 CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency

Jöhrer, K, Schwarz, S, Kofler, R, Kapelari, K, Geley, S, White, PC, Helmberg, A, Peter, M, Vierhapper, H, Glatzl, J, Sippell, WG

J. Clin. Endocrinol. Metab. 1996
Catalyst Activity

steroid 11-beta-monooxygenase activity of CYP11B1 mutants [mitochondrial inner membrane]

Normal reaction
Functional status

Loss of function of CYP11B1 mutants [mitochondrial inner membrane]

Name Identifier Synonyms
adrenal gland disease DOID:9553
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