STAR Chromosome 8
Steroidogenic acute regulatory protein
Upload your DNA to see your personal genotypes for variants in STAR.
What This Gene Does
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]
Gene Info
Gene Group
StAR related lipid transfer domain containing
Locus Type
gene with protein product
Location
8p11.23
Ensembl
ENSG00000147465
Associated Conditions (6)
Congenital lipoid adrenal hyperplasia due to STAR deficency
Malignant lymphoma
large B-cell
diffuse
STAR-related disorder
Syndactyly-telecanthus-anogenital and renal malformations syndrome
Key Variants
RS1053284504
Conflicting classifications of pathogenicity
Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
Health Risk
RS117578796
Conflicting classifications of pathogenicity
Congenital lipoid adrenal hyperplasia due to STAR deficency, Malignant lymphoma, large B-cell
Health Risk
RS138786388
Conflicting classifications of pathogenicity
Congenital lipoid adrenal hyperplasia due to STAR deficency, STAR-related disorder, Congenital lipoid adrenal hyperplasia due to STAR deficency
Health Risk
RS142910480
Conflicting classifications of pathogenicity
Health Risk
RS146872295
Conflicting classifications of pathogenicity
Congenital lipoid adrenal hyperplasia due to STAR deficency, STAR-related disorder, Congenital lipoid adrenal hyperplasia due to STAR deficency
Health Risk
RS147138315
Conflicting classifications of pathogenicity
Congenital lipoid adrenal hyperplasia due to STAR deficency, STAR-related disorder, Congenital lipoid adrenal hyperplasia due to STAR deficency
Health Risk
RS147318238
Conflicting classifications of pathogenicity
Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
Health Risk
RS188044385
Conflicting classifications of pathogenicity
Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
Health Risk
RS200480072
Conflicting classifications of pathogenicity
Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
Health Risk
RS200934871
Conflicting classifications of pathogenicity
Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
Health Risk
RS34908868
Conflicting classifications of pathogenicity
Congenital lipoid adrenal hyperplasia due to STAR deficency, STAR-related disorder, Congenital lipoid adrenal hyperplasia due to STAR deficency
Health Risk
RS35852516
Conflicting classifications of pathogenicity
Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
Health Risk
All Variants (104)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS104894085 | Health Risk | Pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS104894086 | Health Risk | Pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS104894087 | Health Risk | Pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS104894090 | Health Risk | Pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS1157869748 | Health Risk | Pathogenic | — |
| RS1171152008 | Health Risk | Pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS1217935335 | Health Risk | Pathogenic | — |
| RS1303620777 | Health Risk | Pathogenic | — |
| RS137852689 | Health Risk | Pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS137852690 | Health Risk | Pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS1417088430 | Health Risk | Pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS144881901 | Health Risk | Pathogenic | — |
| RS1449423249 | Health Risk | Pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS1460077934 | Health Risk | Pathogenic | — |
| RS1554502732 | Health Risk | Pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS1563268652 | Health Risk | Pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS1563268785 | Health Risk | Pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS1802608033 | Health Risk | Pathogenic | — |
| RS1802653591 | Health Risk | Pathogenic | — |
| RS2130611178 | Health Risk | Pathogenic | — |
| RS2130614304 | Health Risk | Pathogenic | — |
| RS2130617478 | Health Risk | Pathogenic | — |
| RS2130617601 | Health Risk | Pathogenic | — |
| RS2130617665 | Health Risk | Pathogenic | — |
| RS2487059083 | Health Risk | Pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS2487059108 | Health Risk | Pathogenic | — |
| RS2487061701 | Health Risk | Pathogenic | — |
| RS2487063325 | Health Risk | Pathogenic | — |
| RS2487067183 | Health Risk | Pathogenic | — |
| RS2487068851 | Health Risk | Pathogenic | — |
| RS2487069292 | Health Risk | Pathogenic | — |
| RS2487074150 | Health Risk | Pathogenic | — |
| RS2487074342 | Health Risk | Pathogenic | — |
| RS387907235 | Health Risk | Pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS532151097 | Health Risk | Pathogenic | — |
| RS747169620 | Health Risk | Pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Syndactyly-telecanthus-anogenital and renal malformations syndrome, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS750549499 | Health Risk | Pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS751815828 | Health Risk | Pathogenic | — |
| RS757367795 | Health Risk | Pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS760531501 | Health Risk | Pathogenic | — |
| RS771895449 | Health Risk | Pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS781281145 | Health Risk | Pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS104894089 | Health Risk | Pathogenic/Likely pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Syndactyly-telecanthus-anogenital and renal malformations syndrome, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS1350908961 | Health Risk | Pathogenic/Likely pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS139081695 | Health Risk | Pathogenic/Likely pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS193922393 | Health Risk | Pathogenic/Likely pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS551783234 | Health Risk | Pathogenic/Likely pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS749415045 | Health Risk | Pathogenic/Likely pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS751759820 | Health Risk | Pathogenic/Likely pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |
| RS752311616 | Health Risk | Pathogenic/Likely pathogenic | Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency |