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MGP001509

UniProt Annotations

Entry Information
Gene Namehydroxysteroid (17-beta) dehydrogenase 3
Protein EntryDHB3_HUMAN
UniProt IDP37058
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P37058-1; Sequence=Displayed; Name=2; IsoId=P37058-2; Sequence=VSP_056640; Note=No experimental confirmation available.;
Catalytic ActivityTestosterone + NADP(+) = androst-4-ene-3,17- dione + NADPH.
DiseaseMale pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]: These individuals have unambiguous female external genitalia at birth, but fail to menstruate at the time of expected puberty and instead virilize as evidenced by growth of the phallus. Breast development may or may not take place. {ECO:0000269|PubMed:11158067, ECO:0000269|PubMed:8075637, ECO:0000269|PubMed:8550739, ECO:0000269|PubMed:9709959, ECO:0000269|PubMed:9758445}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionFavors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH.
PathwayHormone biosynthesis; testosterone biosynthesis.
SimilarityBelongs to the short-chain dehydrogenases/reductases (SDR) family. 17-beta-HSD 3 subfamily. {ECO:0000305}.
Tissue SpecificityTestis.
Web ResourceName=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/hsd17b3/";
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