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MGP003001

UniProt Annotations

Entry Information

Gene Name	steroidogenic acute regulatory protein
Protein Entry	STAR_HUMAN
UniProt ID	P49675
Species	Human

Comments

Comment type	Description
Disease	Adrenal hyperplasia 1 (AH1) [MIM:201710]: 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. {ECO:0000269\|PubMed:10566637, ECO:0000269\|PubMed:8948562, ECO:0000269\|PubMed:9097960}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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.
Pathway	Steroid metabolism; cholesterol metabolism.
Similarity	Contains 1 START domain. {ECO:0000255\|PROSITE- ProRule:PRU00197}.
Subcellular Location	Mitochondrion.
Subunit	May interact with TSPO. {ECO:0000250}.
Tissue Specificity	Expressed in gonads, adrenal cortex and kidney.
Web Resource	Name=Wikipedia; Note=Steroidogenic acute regulatory protein entry; URL="http://en.wikipedia.org/wiki/Steroidogenic_acute_regulatory_protein";