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STAR 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.
Gene Name: | steroidogenic acute regulatory protein |
Synonyms: | STAR, Cholesterol trafficker, START domain containing 1, Steroidogenic acute regulator, STARD1 |
Target Sequences: | NM_000349 NP_000340.2 P49675 |
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