UniProt functional annotation for P49675



	UniProt functional annotation for P49675

UniProt code: P49675.

Organism: Homo sapiens (Human).

Taxonomy: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.

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. {ECO:0000269|PubMed:7761400, ECO:0000269|PubMed:7892608, ECO:0000269|PubMed:8948562}.

Catalytic activity: Reaction=cholesterol(in) = cholesterol(out); Xref=Rhea:RHEA:39747, ChEBI:CHEBI:16113; Evidence={ECO:0000269|PubMed:7761400, ECO:0000269|PubMed:7892608};

Pathway: Steroid metabolism; cholesterol metabolism. {ECO:0000305|PubMed:7761400}.

Subunit: May interact with TSPO. {ECO:0000250|UniProtKB:P79245}.

Subcellular location: Mitochondrion {ECO:0000250|UniProtKB:P51557}.

Tissue specificity: Expressed in gonads, adrenal cortex and kidney.

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:7892608, ECO:0000269|PubMed:8948562, ECO:0000269|PubMed:9097960}. Note=The disease is caused by variants affecting the gene represented in this entry.

Annotations taken from UniProtKB at the EBI.


Organism:		Homo sapiens (Human).
Taxonomy:		Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo.



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. {ECO:0000269\|PubMed:7761400, ECO:0000269\|PubMed:7892608, ECO:0000269\|PubMed:8948562}.


Catalytic activity:		Reaction=cholesterol(in) = cholesterol(out); Xref=Rhea:RHEA:39747, ChEBI:CHEBI:16113; Evidence={ECO:0000269\|PubMed:7761400, ECO:0000269\|PubMed:7892608};
Pathway:		Steroid metabolism; cholesterol metabolism. {ECO:0000305\|PubMed:7761400}.
Subunit:		May interact with TSPO. {ECO:0000250\|UniProtKB:P79245}.
Subcellular location:		Mitochondrion {ECO:0000250\|UniProtKB:P51557}.
Tissue specificity:		Expressed in gonads, adrenal cortex and kidney.
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:7892608, ECO:0000269\|PubMed:8948562, ECO:0000269\|PubMed:9097960}. Note=The disease is caused by variants affecting the gene represented in this entry.