Steroidogenic Acute Regulatory (STAR) Human Recombinant Protein

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]

STAR: 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. May interact with TSPO. Expressed in gonads, adrenal cortex and kidney.

Protein type: Mitochondrial; Carrier; Lipid-binding

Chromosomal Location of Human Ortholog: 8p11.2

Cellular Component: mitochondrial crista; neuron projection; cell soma; mitochondrial intermembrane space; cytosol

Molecular Function: cholesterol transporter activity; cholesterol binding

Biological Process: steroid metabolic process; response to nicotine; diterpenoid metabolic process; dibenzo-p-dioxin metabolic process; regulation of steroid biosynthetic process; estrogen biosynthetic process; biphenyl metabolic process; circadian sleep/wake cycle, REM sleep; negative regulation of neuron apoptosis; response to nutrient; response to corticosterone stimulus; response to drug; cholesterol metabolic process; bile acid biosynthetic process; progesterone biosynthetic process; insecticide metabolic process; positive regulation of neurogenesis; fractalkine metabolic process; phthalate metabolic process; male gonad development; intracellular cholesterol transport; response to herbicide; glucocorticoid metabolic process; response to ethanol; response to hydrogen peroxide; cellular response to insulin stimulus; response to estrogen stimulus; response to lead ion; C21-steroid hormone biosynthetic process; response to ionizing radiation; response to activity; brain development; steroid biosynthetic process; phenol metabolic process; regulation of neuronal synaptic plasticity

Disease: Lipoid Congenital Adrenal Hyperplasia