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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