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Gene Symbol |
STAR |
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Aliases |
STARD1 |
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Entrez Gene ID |
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Gene Name |
Steroidogenic acute regulatory protein |
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Chromosomal Location |
8p11.23 |
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HGNC ID |
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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]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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| Protein Information |
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Protein Name |
Steroidogenic acute regulatory protein, mitochondrial, START domain containing 1, START domain-containing protein 1, StAR related lipid transfer (START) domain containing 1, cholesterol trafficker, mitochondrial steroid acute regulatory protein, steroid acute regulatory protein, steroidogenic acute regulator, testis secretory sperm-binding protein Li 241mP |
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Function |
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Plays a key role in steroid hormone synthesis by enhancing the metabolism of cholesterol into pregnenolone. Mediates the transfer of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane where it is cleaved to pregnenolone |
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UniProt |
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PDB |
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Pfam |
| Pfam Accession |
Pfam ID |
| PF01852 |
START |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000363868 |
O95477 |
O95477 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Endocrine System Diseases |
| Congenital adrenal hyperplasia |
10566637, 11061515, 15546900, 10323391, 8948562, 25741868, 16968793, 7892608, 15985476, 9141542, 11509019, 9097960, 11502818, 22028173 |
| PCOS |
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| Neoplasms |
| Ovarian Cancer |
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| Endometrial Cancer |
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References |
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| PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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LH, 20-HSD, P450arom |
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Related
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The mRNA expression corresponding to steroidogenic acute regulatory protein (StAR), and 20alpha-hydroxysteroid dehydrogenase (20-HSD) was increased, while that corresponding to cytochrome P450 aromatase (P450arom) was decreased in PCOS follicles as compared to controls. |
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CYP11A, LHR, CYP17 |
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Women with PCOS were identified based on a history of oligo/amenorrhea, hirsutism, and typical morphological appearance of polycystic ovaries (normal or enlarged ovarian volume with multiple subcapsular cysts <8 mm in diameter) at laparotomy or laparoscop |
Related
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The mean levels of LH receptor, StAR, CYP11A, and CYP17 mRNA expression were higher in thecal cells fromPCOS follicles than in size-matched control follicles. |
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