LMPD Database

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LMP002045

Record overview

LMPD IDLMP002045
Gene ID6770
SpeciesHomo sapiens (Human)
Gene Namesteroidogenic acute regulatory protein
Gene SymbolSTAR
SynonymsSTARD1
Alternate namessteroidogenic acute regulatory protein, mitochondrial; cholesterol trafficker; START domain containing 1; steroidogenic acute regulator; steroid acute regulatory protein; START domain-containing protein 1; mitochondrial steroid acute regulatory protein; StAR-related lipid transfer (START) domain containing 1
Chromosome8
Map Location8p11.2
SummaryThe 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]
OrthologsView orthologs and multiple alignments for STAR

Proteins

steroidogenic acute regulatory protein, mitochondrial
Refseq ID:NP_000340
Protein GI:56243551
UniProt ID:P49675
mRNA ID:NM_000349
Length:285
RefSeq Status:REVIEWED
MLLATFKLCAGSSYRHMRNMKGLRQQAVMAISQELNRRALGGPTPSTWINQVRRRSSLLGSRLEETLYSDQELAYLQQGEEAMQKALGILSNQEGWKKES
QQDNGDKVMSKVVPDVGKVFRLEVVVDQPMERLYEELVERMEAMGEWNPNVKEIKVLQKIGKDTFITHELAAEAAGNLVGPRDFVSVRCAKRRGSTCVLA
GMATDFGNMPEQKGVIRAEHGPTCMVLHPLAGSPSKTKLTWLLSIDLKGWLPKSIINQVLSQTQVDFANHLRKRLESHPASEARC