STAR
From SNPedia
is a | gene |
is | mentioned by |
ClinVar | STAR |
GeneCards | STAR |
Diseases | STAR |
wikipedia | STAR |
STAR | |
gopubmed | STAR |
EVS | STAR |
HEFalMp | STAR |
MyGene2 | STAR |
23andMe | STAR |
# SNPs | 18 |
Max Magnitude | Chromosome position | Summary | |
---|---|---|---|
i5007374 | |||
i5007376 | |||
i5007377 | |||
i5048654 | |||
i5048655 | |||
i5048667 | |||
rs104894085 | 9.1 | 38,144,359 | |
rs104894086 | 9.1 | 38,146,068 | |
rs104894087 | 9.1 | 38,144,382 | |
rs104894089 | 9.1 | 38,146,054 | |
rs104894090 | 9.1 | 38,146,051 | |
rs137852689 | 9.1 | 38,145,963 | |
rs137852690 | 9.1 | 38,145,313 | |
rs16887217 | 0 | 38,146,907 | |
rs193922393 | 9.1 | 38,148,684 | |
rs28938471 | 3 | 38,002,834 | |
rs387907235 | 9.1 | 38,146,036 | |
rs771895449 | 0 | 38,145,983 |
The STAR gene is located on chromosome 8 and encodes a 285-amino acid protein regulating the flow of cholesterol from the outer mitochondrial membrane to the inner mitochondrial membrane enzyme where the biosynthesis of steroid begins.
Recessively inherited mutations in the STAR gene can lead to lipoid congenital adrenal hyperplasia (LCAH), a potentially fatal disease if not treated in early infancy.OMIM