SRD5A2

该基因编码一种在雄激素敏感组织(如前列腺)中高水平表达的微粒体蛋白。编码蛋白在酸性ph下具有活性,对4-氮杂类固醇抑制剂非那雄胺敏感。该基因缺陷可导致男性假两性畸形,特别是假阴道会阴尿道下裂(PPSH)[由RefSeq提供,2008年7月]
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]

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基因id

Chromosome:2 Start: 31749656 End: 31806040 Strand: 

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突变与药物

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