Description
Product Characteristics: Function: Converts testosterone (T) into 5-alpha-dihydrotestosterone (DHT) and progesterone or corticosterone into their corresponding 5-alpha-3-oxosteroids. It plays a central role in sexual differentiation and androgen physiology. Defects in SRD5A2 are the cause of pseudovaginal perineoscrotal hypospadias (PPSH), also known as male pseudohermaphroditism due to 5-alpha-reductase deficiency or 5-ARD deficiency. PPSH is a rare form of male pseudohermaphroditism in which affected males develop normal internal urogenital tracts but fail to develop external male structures. Individuals with PPSH have testicles and tend to have a vagina and labia, but with a small penis capable of ejaculation instead of a clitoris (this penis, however, appears to be a clitoris at birth). These individuals are normally raised as girls. However at puberty their testes will descend, their voice will deepen and they often will develop a male sexual identity. They develop only limited facial hair and will not experience male-pattern baldness. Jeffrey Eugenides won a Pulitzer prize for his 2003 novel 'Middlesex' which describes the life an individual with such a deficiency. Subcellular location: Microsome membrane, Multi-pass membrane protein. Endoplasmic reticulum membrane, Multi-pass membrane protein Tissue specificity: Expressed in high levels in the prostate and many other androgen-sensitive tissues.,Reproduction,S5A2, 3-oxo-5-alpha-steroid 4-dehydrogenase 2, Steroid 5-alpha-reductase 2, S5AR 2, 5 alpha-SR2, Type II 5-alpha reductase, SR type 2
Target Information: 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]