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STAR (gene)

From Wikipedia, the free encyclopedia
STAR
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesSTAR, STARD1, steroidogenic acute regulatory protein
External IDsOMIM: 600617; MGI: 102760; HomoloGene: 297; GeneCards: STAR; OMA:STAR - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_000349
NM_001007243

NM_011485

RefSeq (protein)

NP_000340

NP_035615

Location (UCSC)Chr 8: 38.14 – 38.15 MbChr 8: 26.3 – 26.31 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Steroidogenic acute regulatory protein is a protein that in humans is encoded by the STAR gene. [5]

Function

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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].

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000147465Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031574Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "Entrez Gene: Steroidogenic acute regulatory protein". Retrieved 2018-06-24.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.