HSD3B2

Source: Wikipedia, the free encyclopedia.
HSD3B2
Identifiers
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
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

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. ^ a b c GRCh38: Ensembl release 89: ENSG00000203859 - Ensembl, May 2017
  2. ^ a b c 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. S2CID 53250659
    .

Further reading


This page is based on the copyrighted Wikipedia article: HSD3B2. Articles is available under the CC BY-SA 3.0 license; additional terms may apply.Privacy Policy