STAR

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]

Full Name

steroidogenic acute regulatory protein

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.

Biological Process

Biological Process cellular lipid metabolic processIEA:Ensembl
Biological Process cholesterol metabolic processIEA:UniProtKB-UniPathway
Biological Process glucocorticoid metabolic processIEA:Ensembl
Biological Process intracellular cholesterol transportManual Assertion Based On ExperimentIBA:GO_Central
Biological Process positive regulation of bile acid biosynthetic processManual Assertion Based On ExperimentIDA:BHF-UCL
Biological Process regulation of steroid biosynthetic processManual Assertion Based On ExperimentIBA:GO_Central
Biological Process steroid biosynthetic processManual Assertion Based On ExperimentIBA:GO_Central

Cellular Location

Mitochondrion

Involvement in disease

Adrenal hyperplasia 1 (AH1):
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.