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MitoProteome Human Mitochondrial Protein Database
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Related Proteins
MT000167
UniProt Annotations
Entry Information
Gene Name
cytochrome P450, family 11, subfamily A, polypeptide 1
Protein Entry
CP11A_HUMAN
UniProt ID
P05108
Species
Human
Comments
Comment type
Description
Alternative Products
Event=Alternative splicing; Named isoforms=2; Name=1; IsoId=P05108-1; Sequence=Displayed; Name=2; IsoId=P05108-2; Sequence=VSP_045695; Note=No experimental confirmation available.;
Catalytic Activity
Cholesterol + 6 reduced adrenodoxin + 3 O(2) + 6 H(+) = pregnenolone + 4-methylpentanal + 6 oxidized adrenodoxin + 4 H(2)O. {ECO:0000269|PubMed:21636783}.
Cofactor
Name=heme; Xref=ChEBI:CHEBI:30413; Evidence={ECO:0000269|PubMed:21636783};
Disease
Adrenal insufficiency, congenital, with 46,XY sex reversal (AICSR) [MIM:613743]: A rare disorder that can present as acute adrenal insufficiency in infancy or childhood. ACTH and plasma renin activity are elevated and adrenal steroids are inappropriately low or absent; the 46,XY patients have female external genitalia, sometimes with clitoromegaly. The phenotypic spectrum ranges from prematurity, complete underandrogenization, and severe early-onset adrenal failure to term birth with clitoromegaly and later-onset adrenal failure. Patients with congenital adrenal insufficiency do not manifest the massive adrenal enlargement typical of congenital lipoid adrenal hyperplasia. {ECO:0000269|PubMed:11502818, ECO:0000269|PubMed:12161514, ECO:0000269|PubMed:16705068, ECO:0000269|PubMed:18182448, ECO:0000269|PubMed:19116240}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function
Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone. {ECO:0000269|PubMed:21636783}.
Induction
By 8-bromo cyclic AMP. {ECO:0000269|PubMed:1849407}.
Pathway
Lipid metabolism; C21-steroid hormone metabolism. {ECO:0000269|PubMed:21636783}.
Similarity
Belongs to the cytochrome P450 family. {ECO:0000305}.
Subcellular Location
Mitochondrion membrane.
Subunit
Interacts with FDX1/adrenodoxin. {ECO:0000269|PubMed:21636783}.
MitoProteome Human Mitochondrial Protein Database
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