background:
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]
Function:
Catalyzes the side-chain cleavage reaction of cholesterol to pregnenolone.
Subcellular Location:
Mitochondrion membrane.
DISEASE:
Defects in CYP11A1 are the cause of 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.
Similarity:
Belongs to the cytochrome P450 family.
Database links:
Entrez Gene: 1583 Human
Entrez Gene: 13070 Mouse
Entrez Gene: 29136 Rat
Omim: 118485 Human
SwissProt: Q2XV99 Cynomolgus Monkey
SwissProt: P05108 Human
SwissProt: Q9QZ82 Mouse
SwissProt: P14137 Rat
Unigene: 30796 Human
Unigene: 302865 Mouse
Unigene: 1401 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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Blank control:HepG2.
Primary Antibody (green line): Rabbit Anti-CYP11A1 antibody (SL10099R-FITC)
Dilution: 2μg /10^6 cells;
Isotype Control Antibody (orange line): Rabbit IgG .
Protocol
The cells were fixed with 4% PFA (10min at room temperature)and then permeabilized with 0.1% PBST for 20 min at room temperature. The cells were then incubated in 5%BSA to block non-specific protein-protein interactions for 30 min at room temperature .Cells stained with Primary Antibody for 30 min at room temperature. Acquisition of 20,000 events was performed.
Blank control: HepG2.
Primary Antibody (green line): Rabbit Anti-CYP11A1 antibody (SL10099R-FITC)
Dilution: 2μg /10^6 cells;
Isotype Control Antibody (orange line): Rabbit IgG .
Protocol
The cells were fixed with 4% PFA (10min at room temperature)and then permeabilized with PBST for 20 min at room temperature. The cells were then incubated in 5%BSA to block non-specific protein-protein interactions for 30 min at at room temperature .Cells stained with Primary Antibody for 30 min at room temperature. Acquisition of 20,000 events was performed.
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