STAR
Function
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.
Involvement in disease
Adrenal hyperplasia 1
AH1
The most severe form of adrenal hyperplasia. It is a condition characterized by onset of profound adrenocortical insufficiency shortly after birth, hyperpigmentation reflecting increased production of pro-opiomelanocortin, elevated plasma renin activity as a consequence of reduced aldosterone synthesis, and male pseudohermaphroditism resulting from deficient fetal testicular testosterone synthesis. Affected individuals are phenotypic females irrespective of gonadal sex, and frequently die in infancy if mineralocorticoid and glucocorticoid replacement are not instituted.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Steroid metabolism; cholesterol metabolism.
Tissue Specificity
Expressed in gonads, adrenal cortex and kidney.
Cellular localization
- Mitochondrion
Alternative names
STARD1, STAR, StAR, START domain-containing protein 1, StARD1