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SRD5A2 steroid 5 alpha-reductase 2

Gene ID: 6716, updated on 28-Oct-2024
Gene type: protein coding

Summary

This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
MedGen: C0268297OMIM: 264600GeneReviews: Not available
See labs
An atlas of genetic influences on human blood metabolites.
GeneReviews: Not available
Novel gene variants predict serum levels of the cytokines IL-18 and IL-1ra in older adults.
GeneReviews: Not available

Genomic context

Location:
2p23.1
Sequence:
Chromosome: 2; NC_000002.12 (31522480..31663009, complement)
Total number of exons:
9

Links

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