Gene: [02p23/SRD5A2] steroid-5-alpha-reductase, alpha polypeptide 2; pseudohermaphroditism, male (steroid-5-alpha-reductase alpha 2 deficiency); pseudovaginal perineoscrotal hypospadias;
FUN | Systematic name: 3-oxo-5-alpha-steroid:(acceptor) delta(4)-oxidoreductase. The reaction catalyzed: a 3-oxo-5-alpha-steroid + acceptor = = a 3-oxo-delta(4)-steroid + reduced acceptor." |
FAG | See GEM:05p15/SRD5A1. |
REF | PRO,LOC,LIN,POL
"Morissette J &: CCG, 73, 304-307, 1996 CLO,SEQ,MUT "Thigpen AE &: J Clin Invest, 90, 799-809, 1992 |
SWI | SWISSPROT: P31213 |
KEY | horm, ster, sex |
CLA | coding, basic |
LOC | 02 p23 |
MIM | MIM: 264600 |
EZN | ENZYME: 1.3.99.5 |