Defective CYP11B1 does not oxidise 11DCORT

Stable Identifier
R-HSA-5580292
Type
Reaction [transition]
Species
Homo sapiens
Compartment
mitochondrial matrix, mitochondrial inner membrane
ReviewStatus
5/5
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Defective CYP11B1 does not oxidise 11DCORT
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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

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

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

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

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

Zhao, LQ, Han, S, Tian, HM

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

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

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

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

J. Clin. Endocrinol. Metab. 1996
Participants
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as an event of
Catalyst Activity

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

Physical Entity
CYP11B1 mutants [mitochondrial inner membrane] (Homo sapiens)
Activity
steroid 11-beta-monooxygenase activity (GO:0004507)
Normal reaction
CYP11B1 oxidises 11DCORT (Homo sapiens)
Functional status

Loss of function of CYP11B1 mutants [mitochondrial inner membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
adrenal gland disease DOID:9553
Cross References
Mondo
Authored
Jassal, B  (2014-06-10)
Reviewed
Nakaki, T  (2014-11-03)
Created
Jassal, B  (2014-06-10)
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