Gene: [08q21/CYP11B1] cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1; steroid 11-beta-hydroxylase (adrenal hyperplasia IV); corticosterone methyl oxidase 1 (CMO I); adrenal hyperplasia IV (steroid 11-beta-hydroxylase deficiency); hyperaldosteronism, familial, type 1 (ACTH/glucocorticoid-suppressible; MIM:103900);

GEN

The gene length is 6.5 kb. Exons: 9; introns: 8.

FUN

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

PAT

MIM describes, as independent markers, two forms of aldosteron deficiency: CMO-I (due to 18-hydroxylase defect, MIM:203400) and CMO-II (due to 18-hydroxisteroid dehydrogenase defect, MIM 20341). In recent reports, the product of CYP11B locus is suggested to possesses several activities."

REL

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

REF

PRO,SEQ,EXP,LOC,CYG,MOL "Chua SC &: PNAS, 84, N20, 7193-7197, 1987
MEB,PHE "Drop SLS &: Acta Endocrinol, 99, 245-250, 1982
MEB,MUT,POL "Globerman H &: New Engl J Med, 319, N18, 1193-1197, 1988
GEN,EXP,FAG "Mornet E, White PC: CCG, 51, (HGM10), 1047, 1989
MEB,PAT,POP "Rosler A &: J Clin Endocrinol Metab, 59, 689-700, 1984
MEB,PHE "Veldhuis JD &: New Engl J Med, 303, 117-121, 1980
MEB,PAT "White PC &: New Engl J Med, 316, 1519-1524, 1987a
MEB,PAT "White PC &: New Engl J Med, 316, 1580-1586, 1987b

SWI

 SWISSPROT: P15538

KEY

sex, horm

CLA

coding, basic

LOC

08 q21

MIM

 MIM: 202010

EZN

 ENZYME: 1.14.15.4

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