Gene Symbol | SRD5A2 |
Entrez Gene ID | 6716 |
Full Name | steroid 5 alpha-reductase 2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Pseudovaginal perineoscrotal hypospadias, 264600 (3) |