STAR, Official Symbol STARprovided by HGNC Official Full Name steroidogenic acute regulatory proteinprovided by HGNC Primary source HGNC:HGNC:11359 See related Ensembl:ENSG00000147465 MIM:600617; AllianceGenome:HGNC:11359 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as STARD1 Summary 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] Expression Biased expression in adrenal (RPKM 722.2), ovary (RPKM 68.2) and 1 other tissue See more Orthologs mouse all