LMPD Database

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LMP002194

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
DiseaseNote=Mild HSD3B2 deficiency in hyperandrogenic females is associated with characteristic traits of polycystic ovary syndrome, such as insulin resistance and luteinizing hormone hypersecretion.
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= ;
SimilarityBelongs to the 3-beta-HSD family.
Subcellular LocationEndoplasmic reticulum membrane; Single-pass membrane protein. Mitochondrion membrane; Single-pass membrane protein.
Tissue SpecificityExpressed in adrenal gland, testis and ovary.