Gene: [01p131/HSD3B2] hydroxy-delta-5-steroid (3 beta-) dehydrogenase 2 (EC:1.1.1.145); steroid delta-isomerase 2 (EC:5.3.3.1); adrenal hyperplasia II (3-beta-HSD2 deficiency);
FUN | [1]
EC:1.1.1.145: Systematic name: 3-beta-hydroxy-delta-5-steroid:NAD(+)
3-oxidoreductase. Catalyzed reaction: 3-beta-hydroxy-delta-5-steroid +
NAD(+) = 3-oxo-delta-5-steroid + NADH. [2] EC:5.3.3.1: Catalyzed reaction: 3-oxo-delta-5-steroid = 3-oxo-delta-4-steroid." |
REL | GEM:01p131/HSD3B1. |
REF | FAG "Berube &: CCG,
51, (HGM10), 962, 1989 HIS,PAT,PHE "Bongiovanni AM: J Clin Invest, 41, 2086-2092, 1962 PAT,MEB,MUT "Cravioto &: J Clin Endocrinol Metab, 63, 360-367, 1986 PAT,MEB,MUT "Stalvey &: Biochem Genet, 25, 181-190, 1987 |
SWI | SWISSPROT: P26439 |
KEY | ster, horm, sex, mem |
CLA | coding, basic |
LOC | 01 p13.1 |
MIM | MIM: 201810 |
EZN | ENZYME: 1.1.1.145 |
