Harman Patil (Editor)

HSD3B1

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Species
  
Human

Entrez
  
3283

Human
  
Mouse

Ensembl
  
ENSG00000203857

HSD3B1

Aliases
  
HSD3B1, 3BETAHSD, HSD3B, HSDB3, HSDB3A, I, SDR11E1, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1

External IDs
  
MGI: 96235 HomoloGene: 133013 GeneCards: HSD3B1

HSD3B1 is a human gene that encodes for a 3beta-hydroxysteroid dehydrogenase/delta(5)-delta(4)isomerase type I or hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1. While it can carry out the same function as HSD3B2, it localizes primarily to different tissues, such as the placenta and nonsteroidogenic tissues. Its requirement for the production of progesterone by the placenta, which has a vital role in pregnancy, may be one reason why no disease based on mutations in this gene has been identified to date.

Clinical significance

The 1245C allele is associated with poorer outcomes in prostate cancer.

References

HSD3B1 Wikipedia