SRD5A2 steroid 5 alpha-reductase 2
Gene ID: 6716, updated on 12-Nov-2024Gene type: protein coding
- See all available tests in GTR for this gene
- Go to complete Gene record for SRD5A2
- Go to Variation Viewer for SRD5A2 variants
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
| Description | Tests |
|---|---|
| 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency | 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
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SRD5A2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SRD5A2 database
- Variation ViewerRelated Variants
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