Cytochrome P450, Subfamily XIB, Polypeptide 2

Alternative Names

  • CYP11B2
  • Steroid 11/18-Beta-Hydroxylase
  • Steroid 18-Oxidase
  • Aldosterone Synthase
  • ALDOS

Associated Diseases

Type 2 Diabetes Mellitus
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OMIM Number

124080

NCBI Gene ID

1585

Uniprot ID

P19099

Length

7,285 bases

No. of Exons

9

Protein Name

Cytochrome P450 11B2, mitochondrial

Molecular Mass

57560 Da

Amino Acid Count

503

Genomic Location

chr8:142,910,558-142,917,842

Gene Map Locus
8q24.3

Description

This gene encodes 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. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000498.3:c.-344=United Arab EmiratesNC_000008.11:g.142918184=AssociationBenignType 2 Diabetes MellitusNG_008374.1:g.4660=; NM_000498.3:c.-344=179999816883
NM_000498.3:c.-344T>CUnited Arab EmiratesNC_000008.11:g.142918184A>GBenignBenign, ProtectiveType 2 Diabetes MellitusNG_008374.1:g.4660T>C; NM_000498.3:c.-344T>C1799998759405
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