The SRD5A2 gene homepage
| General information |
| Gene symbol |
SRD5A2 |
| Gene name |
steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) |
| Chromosome |
2 |
| Chromosomal band |
p23.1 |
| Imprinted |
- |
| Genomic reference |
NG_008365.1 |
| Transcript reference |
NM_000348.3 |
| Associated with diseases |
WD |
| Citation reference(s) |
Pan M et al, 2011
Zhang T et al, 2010 |
| Refseq URL |
Coding DNA reference sequence |
| Curators (0) |
- |
| Total number of public variants reported |
79 |
| Unique public DNA variants reported |
46 |
| Individuals with public variants |
0 |
| Hidden variants |
- |
| Notes |
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] |
| Date created |
May 04, 2013 |
Active transcripts
| Copyright & disclaimer |
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