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Protein Page:
CYP11A1 (human)

Overview
CYP11A1 Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone. Defects in CYP11A1 are the cause of adrenal insufficiency congenital with 46,XY sex reversal (AICSR). 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. Belongs to the cytochrome P450 family. Note: This description may include information from UniProtKB.
Protein type: EC 1.14.15.6; Lipid Metabolism - C21-steroid hormone; Mitochondrial; Oxidoreductase
Chromosomal Location of Human Ortholog: 15q23-q24
Cellular Component: mitochondrial inner membrane; mitochondrial matrix; mitochondrion
Molecular Function: cholesterol monooxygenase (side-chain-cleaving) activity; heme binding; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen
Biological Process: C21-steroid hormone biosynthetic process; cholesterol metabolic process; glucocorticoid biosynthetic process; sterol metabolic process; vitamin D metabolic process
Disease: Adrenal Insufficiency, Congenital, With 46,xy Sex Reversal, Partial Or Complete
Reference #:  P05108 (UniProtKB)
Alt. Names/Synonyms: cholesterol 20-22 desmolase; Cholesterol desmolase; cholesterol monooxygenase (side-chain cleaving); Cholesterol side-chain cleavage enzyme, mitochondrial; CP11A; CYP11A; CYP11A1; CYPXIA1; Cytochrome P450 11A1; Cytochrome P450(scc); cytochrome P450, family 11, subfamily A, polypeptide 1; cytochrome P450, subfamily XIA (cholesterol side chain cleavage); cytochrome P450C11A1; P450SCC; steroid 20-22-lyase
Gene Symbols: CYP11A1
Molecular weight: 60,102 Da
Basal Isoelectric point: 8.89  Predict pI for various phosphorylation states
Protein-Specific Antibodies or siRNAs from Cell Signaling Technology® Total Proteins
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CYP11A1

Protein Structure Not Found.
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