Cytochrome P450 11B1 (CYP11B1)

CPN1; CYP11B; FHI; CYPXIB1; S11BH; 11-Beta-Hydroxylase; Cytochrome P450 Family 11 Subfamily B Polypeptide 1; Steroid 11-beta-hydroxylase; Cytochrome P-450c11

SPN	T238
HGNC	2591
MGI	88584
PubMed	9302260
RGD	2453
UniProt	P15538
Wiki	CYP11B1

Steroid 11β-hydroxylase is a steroid hydroxylase found in the zona fasciculata. Named officially the cytochrome P450 11B1, mitochondrial, it is a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids.

This protein localizes to the mitochondrial inner membrane and is involved in the conversion of 11-deoxycortisol to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene.

Reference

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"Cloning of cDNA encoding steroid 11 beta-hydroxylase (P450c11)."
Proc. Natl. Acad. Sci. U.S.A. 84:7193-7197(1987) [PubMed] [Europe PMC] [Abstract]

"Role of steroid 11 beta-hydroxylase and steroid 18-hydroxylase in the biosynthesis of glucocorticoids and mineralocorticoids in humans."
Proc. Natl. Acad. Sci. U.S.A. 89:1458-1462(1992) [PubMed] [Europe PMC] [Abstract]

"A mutation in CYP11B1 (Arg-448-->His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin."
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"CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency."
Hum. Mol. Genet. 6:1829-1834(1997) [PubMed] [Europe PMC] [Abstract]

"The C494F variant in the CYP11B1 gene is a sequence polymorphism in the Spanish population."
J. Clin. Endocrinol. Metab. 84:4749-4749(1999) [PubMed] [Europe PMC] [Abstract]

"Characterization of single-nucleotide polymorphisms in coding regions of human genes."
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Erratum
Nat. Genet. 23:373-373(1999)

"Patterns of single-nucleotide polymorphisms in candidate genes for blood-pressure homeostasis."
Nat. Genet. 22:239-247(1999) [PubMed] [Europe PMC] [Abstract]

"21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia."
J. Clin. Endocrinol. Metab. 90:5769-5773(2005) [PubMed] [Europe PMC] [Abstract]

"Only two mutations detected in 15 Tunisian patients with 11beta-hydroxylase deficiency: the p.Q356X and the novel p.G379V."
Clin. Genet. 78:398-401(2010) [PubMed] [Europe PMC] [Abstract]

"Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11beta-hydroxylase deficiency in a Chinese patient."
Fertil. Steril. 95:1122-1122(2011) [PubMed] [Europe PMC] [Abstract]