Gene: [05q2/HSD17B4] hydroxysteroid (17-beta) dehydrogenase 4; estradiol 17 beta-dehydrogenase 4; D-bifunctional protein deficiency;
COM | Leenders-1997 assigned 17-beta hydroxysteroid dehydrogenase IV gene to Chr 5q2 by fluorescence in situ hybridization." |
FUN | [1]
Systematic name: 11-beta-hydroxysteroid:NADP+ 11-oxidoreductase. [2] Catalysed reaction: 11-beta-hydroxysteroid + NADP(+) = 11-oxosteroid + NADPH." |
REF | CLO,SEQ,EXP "Adamski J &: Biochem J, 311, 437-443,
1995 LOC "Leenders F &: Genomics, 37, N3, 403-404, 1996 MUT "van Grunsven EG &: PNAS, 95, N5, 2128-2133, 1998 |
SWI | SWISSPROT: P51659 |
KEY | horm, sex |
CLA | coding, basic |
LOC | 05 q2 |
MIM | MIM: 601860 |
EZN | ENZYME: 1.1.1.62 |