Aliases for STAR Gene
External Ids for STAR Gene
Previous GeneCards Identifiers for STAR Gene
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]
GeneCards Summary for STAR Gene
STAR (Steroidogenic Acute Regulatory Protein) is a Protein Coding gene. Diseases associated with STAR include Lipoid Congenital Adrenal Hyperplasia and Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations. Among its related pathways are Aldosterone synthesis and secretion and Circadian rythm related genes. Gene Ontology (GO) annotations related to this gene include lipid binding and cholesterol transporter activity. An important paralog of this gene is STARD3.
UniProtKB/Swiss-Prot Summary for STAR Gene
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.