Gene: [08q21/CYP11B2] cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2; steroid 11-beta-hydroxylase B2 (aldosterone synthase; ALDOS); aldosterone deficiency II; hypoaldosteronism II (corticosterone methyl oxidase type II deficiency); low renin hypertension (CYP11B2, lys173arg); hyperaldosteronism, familial, type 1 (ACTH/glucocorticoid-suppressible; MIM:103900);

GEN

The gene length is 6.5 kb. Exons: 9; introns: 8 (Mornet-1989).

FUN

[1] Systematic name: steroid,reduced adrenal ferredoxin:oxygen oxidoreductase (11-beta-hydroxylating).
[2] The reaction catalyzed: a steroid + reduced adrenal ferredoxin + O(2) = = an 11-beta- hydroxysteroid + oxidized adrenal ferredoxin + H(2)O."

REL

GEM:08q21/CYP11B1; FAM:CYP11B/08q21; FAM:CYP/00.0.

REF

PAT,MUT,SEQ,FOG "Fardella CE &: J Clin Endocrinol Metab, 81, 4347-4351, 1996
GEN,SEQ,EXP,MEB,FUN "Kawamoto T &: PNAS, 89, 1458-1462, 1992
IDN,GEN,EXP,LOC,FAG "Mornet E &: JBC, 264, 20961-20967, 1989
PAT,MUT "Pascoe L &: PNAS, 89, 4996-5000, 1992
PAT,MUT,TER "Picco P &: Eur J Pediatr, 151, 170-173, 1992

SWI

 SWISSPROT: P19099

KEY

sex, horm, card

CLA

coding, basic

LOC

08 q21

MIM

 MIM: 124080

EZN

 ENZYME: 1.14.15.4

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