基因名称(Gene Name)
STAR STARD1
蛋白名称
Steroidogenic acute regulatory protein, mitochondrial (StAR) (START domain-containing protein 1) (StARD1)
组成
PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA
来源
Monoclonal, Rabbit,IgG
稀释比例
WB 1:1000-1:5000; IF 1:200-1:1000; ELISA 1:5000-1:20000; IP 1:50-1:200;
储存
-15°C to -25°C/1 year(Do not lower than -25°C)
背景
The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by enhancing the conversion of cholesterol into pregnenolone. This protein permits the cleavage of cholesterol into pregnenolone by mediating the transport of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane. Mutations in this gene are a cause of congenital lipoid adrenal hyperplasia (CLAH), also called lipoid CAH. A pseudogene of this gene is located on chromosome 13. [provided by RefSeq, Jul 2008],
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.,
