StAR est un gène codé par le symbole STAR. Il est également connu sous le nom de Steroidogenic acute regulatory protein, mitochondrialT domain-containing protein 1D1D1. StAR a une masse de 31.91kDa, une longueur d'acide aminé de 285, et est impliqué dans Adrenal hyperplasia 1.
Nous proposons 16 des anticorps contre StAR, élevé dans Lapin et Souris, qui sont appropriés pour le WB, IHC, ICC/IF et IP avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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.
Résumé Entrez
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.
Spécificité tissulaire
Expressed in gonads, adrenal cortex and kidney.
Implication dans la maladie
Adrenal hyperplasia 1: The most severe form of adrenal hyperplasia. It is a condition characterized by 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. Affected individuals are phenotypic females irrespective of gonadal sex, and frequently die in infancy if mineralocorticoid and glucocorticoid replacement are not instituted.
Localisation cellulaire
Mitochondrion.
