Steroid 11-beta-hydroxylase

Steroid 11-beta-hydroxylase
Cytochrome P450, family 11, subfamily B, polypeptide 1
Identifiers
Symbols CYP11B1; CPN1; CYP11B; DKFZp686B05283; FHI; FLJ36771; P450C11
External IDs OMIM610613 MGI88584 HomoloGene106947 GeneCards: CYP11B1 Gene
EC number 1.14.15.4
RNA expression pattern
PBB GE CYP11B1 214610 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 1584 110115
Ensembl ENSG00000160882 ENSMUSG00000075604
UniProt P15538 Q14AB5
RefSeq (mRNA) NM_000497.3 NM_001033229.3
RefSeq (protein) NP_000488.3 NP_001028401.2
Location (UCSC) Chr 8:
143.95 – 143.96 Mb
Chr 15:
74.67 – 74.67 Mb
PubMed search [1] [2]

Steroid 11β-hydroxylase is a steroid hydroxylase found in the zona fasciculata. Named officially the cytochrome P450 11B1, mitochondrial, it is a protein that in humans is encoded by the CYP11B1 gene.[1][2]

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases that 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.[2]


Contents

Function

It generates cortisol from 11-deoxycortisol and corticosterone from 11-deoxycorticosterone. Note the extra "–OH" added at the 11 position (near the center, on ring "C"):

Clinical significance

A mutation is associated with congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.

Additional images

Steroidogenesis, showing steroid 11-beta-hydroxylase vertically at right.

References

  1. ^ Lifton RP, Dluhy RG, Powers M, Rich GM, Gutkin M, Fallo F, Gill JR Jr, Feld L et al. (Jun 1993). "Hereditary hypertension caused by chimaeric gene duplications and ectopic expression of aldosterone synthase". Nat Genet 2 (1): 66–74. doi:10.1038/ng0992-66. PMID 1303253. 
  2. ^ a b "Entrez Gene: CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1584. 

Further reading

External links


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