Animal ID:
RB0155-0156
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Host:
Rabbit
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Reactivity:
human
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Buffers:
Purified rabbit polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein G column and eluted out with both high and low pH buffers and neutralized immediately after elution then followed by dialysis against PBS.
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Storage:
Maintain refrigerated at 2-8ºC for up to 6 months. For long term storage store at -20ºC. Avoid repeated freeze-thaw cycles.
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Application:
Tested by peptide-specific ELISA (1:1,000).
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Immunogen:
KLH conjugated synthetic peptide comprised of amino acids 23 - 39 [WKLRSLHLPPLAPGFLH] of the human cytochrome P450 family 21 subfamily A polypeptide 2 (CYP21A2) protein.
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Accession number:
NM_000500
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Description:
CYP21A2 is a member of the cytochrome P450 superfamily of enzymes. Cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. CYP21A2 localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene and gene conversion events involving the functional gene and the pseudogene are thought account for many cases of steroid 21-hydroxylase deficiency in man.
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Alternative Name(s):
cytochrome P450 family 21 subfamily A polypeptide 2, CAH1, CPS1, CA21H, CYP21, CYP21B, P450c21B, steroid 21-hydroxylase, steroid 21-monooxygenase, cytochrome P450 subfamily XXIA polypeptide, congenital adrenal hyperplasia polypeptide cytochrome P450 family 21 subfamily A polypeptide 2 (CYP21A2)
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References:
- Lajic S, Clauin S, Robins T, Vexiau P, Blanche H, Bellanne-Chantelot C, Wedell A: Novel mutations in CYP21 detected in individuals with hyperandrogenism. J. Clin. Endocrinol. Metab. 87(6): 2824-2839 (2002).
- Koyama S, Toyoura T, Saisho S, Shimozawa K, Yata J: Genetic analysis of Japanese patients with 21-hydroxylase deficiency: identification of a patient with a new mutation of a homozygous deletion of adenine at codon 246 and patients without demonstrable mutations within the structural gene for CYP21. J. Clin. Endocrinol. Metab. 87(6): 2668-2673 (2002).
- Hogg JE, Gaffney D, Hector RD, Coleman MM, Wallace AM: Application of polymerase chain reaction with oligoligation assay to determine genotype in individuals presenting with congenital adrenal hyperplasia. Ann. Clin. Biochem. 39(Pt 3): 293-303 (2002).
- Rodrigues NR, Dunham I, Yu CY, Carroll MC, Porter RR, Campbell RD: Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia. EMBO J. 6(6): 1653-1661 (1997).
- Higashi Y, Tanae A, Inoue H, Hiromasa T, Fujii-Kuriyama Y: Aberrant splicing and missense mutations cause steroid 21-hydroxylase [P-450(C21)] deficiency in humans: possible gene conversion products. Proc. Natl. Acad. Sci. U S A. 85(20): 7486-7490 (1988).
- Helmberg A, Tabarelli M, Fuchs MA, Keller E, Dobler G, Schnegg I, Knorr D, Albert E, Kofler R: Identification of molecular defects causing congenital adrenal hyperplasia by cloning and differential hybridization of polymerase chain reaction-amplified 21-hydroxylase (CYP21) genes. DNA Cell. Biol. 11(5): 359-368 (1992).
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For Research Use Only. Not for Diagnostic or Therapeutic Use.
Purchase does not include or carry any right to resell or transfer this product either as a stand-alone product or as a component of another product. Any use of this product other than the permitted use without the express written authorization of Orbigen, Inc. is strictly prohibited
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