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Hsd3b2

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Hsd3b2

Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
Identifiers
Symbols  ; HSD3B; HSDB; SDR11E2
External IDs ChEMBL: GeneCards:
EC number
RNA expression pattern
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
Location (UCSC)
PubMed search

HSD3B2 is a human gene that encodes for 3beta-hydroxysteroid dehydrogenase/delta(5)-delta(4)isomerase type II or hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2.[1] It is expressed principally in steroidogenic tissues and is essential for steroid hormone production.[2] A notable exception is the placenta, where HSD3B1 is critical for progesterone production by this tissue.

Mutations in the HSD3B2 gene result in the condition congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency.

References

  1. ^ "Entrez Gene: HSD3B2 Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2". 
  2. ^ Pelletier G, Dupont E, Simard J, Luu-The V, Bélanger A, Labrie F (October 1992). "Ontogeny and subcellular localization of 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) in the human and rat adrenal, ovary and testis". J. Steroid Biochem. Mol. Biol. 43 (5): 451–67.  

Further reading

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