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MGP001505

UniProt Annotations

Entry Information
Gene Namehydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Protein Entry3BHS2_HUMAN
UniProt IDP26439
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=P26439-1; Sequence=Displayed; Name=2; IsoId=P26439-2; Sequence=VSP_037399, VSP_037400;
Catalytic ActivityA 3-beta-hydroxy-Delta(5)-steroid + NAD(+) = a 3-oxo-Delta(5)-steroid + NADH.
Catalytic ActivityA 3-oxo-Delta(5)-steroid = a 3-oxo-Delta(4)- steroid.
DiseaseAdrenal hyperplasia 2 (AH2) [MIM:201810]: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late- onset (NC or LOAH)and 'cryptic' (asymptomatic). In AH2, virilization is much less marked or does not occur. AH2 is frequently lethal in early life. {ECO:0000269|PubMed:10599696, ECO:0000269|PubMed:10651755, ECO:0000269|PubMed:10843183, ECO:0000269|PubMed:12050213, ECO:0000269|PubMed:18252794, ECO:0000269|PubMed:22579964, ECO:0000269|PubMed:7608265, ECO:0000269|PubMed:7633426, ECO:0000269|PubMed:7633460, ECO:0000269|PubMed:7833923, ECO:0000269|PubMed:7893703, ECO:0000269|PubMed:7962268, ECO:0000269|PubMed:8060486, ECO:0000269|PubMed:8126127, ECO:0000269|PubMed:8185809, ECO:0000269|PubMed:8316254, ECO:0000269|PubMed:9719627}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseNote=Mild HSD3B2 deficiency in hyperandrogenic females is associated with characteristic traits of polycystic ovary syndrome, such as insulin resistance and luteinizing hormone hypersecretion. {ECO:0000269|PubMed:14764797}.
Function3-beta-HSD is a bifunctional enzyme, that catalyzes the oxidative conversion of Delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids.
PathwayLipid metabolism; steroid biosynthesis.
Sequence CautionSequence=AAC60600.1; Type=Frameshift; Positions=186; Note=The frameshift is caused by a single nucleotide insertion which is found in AH2.; Evidence={ECO:0000305};
SimilarityBelongs to the 3-beta-HSD family. {ECO:0000305}.
Subcellular LocationEndoplasmic reticulum membrane; Single-pass membrane protein. Mitochondrion membrane; Single-pass membrane protein.
Tissue SpecificityExpressed in adrenal gland, testis and ovary.
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