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Official Full Name: steroidogenic acute regulatory protein
Also known as: STARD1
The protein encoded by this gene plays a key role in the acute regulation of steroid hormone synthesis by promoting the conversion of cholesterol to pregnenolone. This protein cleaves cholesterol to 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 known as lipid CAH. A pseudogene of this gene is located on chromosome 13.