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MGP001505

Record overview

MGPD IDMGP001505
Gene ID3284
SpeciesHomo sapiens (Human)
Gene Namehydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Gene Symbol HSD3B2
SynonymsHSDB; HSD3B; SDR11E2;
Alternate names3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2; 3 beta-HSD type II; 3 beta-hydroxysteroid dehydrogenase type II, delta 5-delta 4-isomerase type II, 3 beta-HSD type II; 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type II; 3-beta-HSD II; 3-beta-HSD adrenal and gonadal type; 3-beta-hydroxy-5-ene steroid dehydrogenase; 3-beta-hydroxy-Delta(5)-steroid dehydrogenase; delta 5-delta 4-isomerase type II; progesterone reductase; short chain dehydrogenase/reductase family 11E, member 2;
Chromosome1
Map Location1p13.1
EC Number1.1.1.145
SummaryThe protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Oct 2009]
OrthologsView orthologs and multiple alignments for HSD3B2

Proteins

3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2
Refseq ID:NP_001159592
Protein GI:260763931
UniProt ID:P26439
mRNA ID:NM_001166120
Length:372
RefSeq Status:
MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELREEFSKLQNRTKLTVLEGDILDEPFLKRACQDVSVVIHTACIIDVFGVTHRESIMNVN
VKGTQLLLEACVQASVPVFIYTSSIEVAGPNSYKEIIQNGHEEEPLENTWPTPYPYSKKLAEKAVLAANGWNLKNGDTLYTCALRPTYIYGEGGPFLSAS
INEALNNNGILSSVGKFSTVNPVYVGNVAWAHILALRALRDPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFGLRLDSRWSLPLTLMYWIGFLLEVV
SFLLSPIYSYQPPFNRHTVTLSNSVFTFSYKKAQRDLAYKPLYSWEEAKQKTVEWVGSLVDRHKETLKSKTQ
 
3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 2
Refseq ID:NP_000189
Protein GI:4504509
UniProt ID:P26439
mRNA ID:NM_000198
Length:372
RefSeq Status:
Protein sequence is identical to GI:260763931 (mRNA isoform)
 
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