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3-beta hydroxy-5-ene steroid dehydrogenase type 2; steroid delta isomerase; progesterone reductase (HSD3B2)
Function:
- 3-beta-HSD is a bifunctional enzyme
- catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, & the oxidative conversion of ketosteroids
- the 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids
- lipid metabolism; steroid biosynthesis
3-beta-hydroxy-delta(5)-steroid + NAD+
3-oxo-delta(5)-steroid + NADH
3-oxo-delta(5)-steroid a 3-oxo-delta(4)-steroid
Structure: belongs to the 3-beta-HSD family
Compartment:
- endoplasmic reticulum membrane
- mitochondrial membrane
Expression: adrenal glands, testes & ovaries
Pathology:
- defects in HSD3B2 are the cause of adrenal hyperplasia type 2
- mild HSD3B2 deficiency in hyperandrogenic females is associated with traits of polycystic ovary syndrome
a) insulin resistance
b) luteinizing hormone hypersecretion
General
dehydrogenase
isomerase
membrane protein
Properties
SIZE: MW = 42 kD
entity length = 371 aa
COMPARTMENT: endoplasmic reticulum
MOTIF: active site
SITE: N-TERMINAL
MOTIF: cofactor-binding site [4-35]
FOR-BINDING-OF: NAD
transmembrane domain {287-307}
Database Correlations
OMIM 201810
UniProt P26439
Pfam PF01073
Kegg hsa:3284
ENZYME correlations
References
- UniProt :accession P26439
- genedis; congenital adrenal hyperplasia website
http://life2.tau.ac.il/genedis/Tables/CAH/cah.html
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=HSD3B2