HSD3B2
Identifiers
AliasesHSD3B2, HSD3B, HSDB, SDR11E2, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
External IDsOMIM: 613890 MGI: 96233 HomoloGene: 69149 GeneCards: HSD3B2
Orthologs
SpeciesHumanMouse
Entrez

3284

15492

Ensembl

ENSG00000203859

ENSMUSG00000027871

UniProt

P26439
Q5QP01

P24815

RefSeq (mRNA)

NM_001166120
NM_000198

NM_008293
NM_001304800

RefSeq (protein)

NP_000189
NP_001159592

NP_001291729
NP_032319

Location (UCSC)Chr 1: 119.41 – 119.42 MbChr 3: 98.76 – 98.77 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5] It is expressed principally in steroidogenic tissues and is essential for steroid hormone production.[6] 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. 1 2 3 GRCh38: Ensembl release 89: ENSG00000203859 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027871 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. "Entrez Gene: HSD3B2 Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2".
  6. 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. doi:10.1016/0960-0760(92)90084-V. PMID 1390295. S2CID 53250659.

Further reading


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