功能： disease:Defects in STAR are a cause of congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]; also called lipoid CAH. CLAH is the most severe form of adrenal hyperplasia. This autosomal recessive and potentially lethal condition includes the onset of profound adrenocortical insufficiency shortly after birth, hyperpigmentation reflecting increased production of pro-opiomelanocortin, elevated plasma renin activity as a consequence of reduced aldosterone synthesis, and male pseudohermaphroditism resulting from deficient fetal testicular testosterone synthesis. CLAH is a rare disease, except in Japan and Korea where it accounts for a significant percentage of cases of congenital adrenal hyperplasia.,function:Plays a key role in steroid hormone synthesis by enhancing the metabolism of cholesterol into pregnenolone. Mediates the transfer of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane where it is cleaved to pregnenolone.,online information:Steroidogenic acute regulatory protein entry,pathway:Steroid metabolism; cholesterol metabolism.,similarity:Contains 1 START domain.,subunit:May interact with TSPO.,tissue specificity:Expressed in gonads, adrenal cortex and kidney.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Mitochondrion .
组织表达： Expressed in gonads, adrenal cortex and kidney.
功能： disease:Defects in STAR are a cause of congenital lipoid adrenal hyperplasia (CLAH) [MIM:201710]; also called lipoid CAH. CLAH is the most severe form of adrenal hyperplasia. This autosomal recessive and potentially lethal condition includes the onset of profound adrenocortical insufficiency shortly after birth, hyperpigmentation reflecting increased production of pro-opiomelanocortin, elevated plasma renin activity as a consequence of reduced aldosterone synthesis, and male pseudohermaphroditism resulting from deficient fetal testicular testosterone synthesis. CLAH is a rare disease, except in Japan and Korea where it accounts for a significant percentage of cases of congenital adrenal hyperplasia.,function:Plays a key role in steroid hormone synthesis by enhancing the metabolism of cholesterol into pregnenolone. Mediates the transfer of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane where it is cleaved to pregnenolone.,online information:Steroidogenic acute regulatory protein entry,pathway:Steroid metabolism; cholesterol metabolism.,similarity:Contains 1 START domain.,subunit:May interact with TSPO.,tissue specificity:Expressed in gonads, adrenal cortex and kidney.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Mitochondrion .
组织表达： Expressed in gonads, adrenal cortex and kidney.
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