NP_000772.2
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Primary Accession #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
cholesterol side-chain cleavage enzyme, mitochondrial isoform a
NCBI Official Synonym Full Names
cytochrome P450 family 11 subfamily A member 1
NCBI Protein Information
cholesterol side-chain cleavage enzyme, mitochondrial
UniProt Protein Name
Cholesterol side-chain cleavage enzyme, mitochondrial
UniProt Synonym Protein Names
CYPXIA1; Cholesterol desmolase; Cytochrome P450 11A1; Cytochrome P450(scc)
UniProt Synonym Gene Names
UniProt Entry Name
CP11A_HUMAN
NCBI Summary for CYP11A1
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]
UniProt Comments for CYP11A1
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.
Protein type: EC 1.14.15.6; Oxidoreductase; Mitochondrial; Lipid Metabolism - C21-steroid hormone
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; iron ion 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; steroid metabolic process; sterol metabolic process; vitamin D metabolic process; xenobiotic metabolic process
Disease: Adrenal Insufficiency, Congenital, With 46,xy Sex Reversal, Partial Or Complete
Research Articles on CYP11A1
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with anti-CYP11A1 antibody
Pathways associated with anti-CYP11A1 antibody
Diseases associated with anti-CYP11A1 antibody
Organs/Tissues associated with anti-CYP11A1 antibody
|