产品名称
CYP21A2 Rabbit Polyclonal Antibody
别名
CYP21A2; CYP21; CYP21B; Steroid 21-hydroxylase; 21-OHase; Cytochrome P-450c21; Cytochrome P450 21; Cytochrome P450 XXI; Cytochrome P450-C21; Cytochrome P450-C21B
蛋白名称
Steroid 21-hydroxylase
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&term=1589
Human Swissprot No.
P08686
Human Swissprot Link
http://www.uniprot.org/uniprotkb/P08686/entry
Mouse Swissprot No.
P03940
Mouse Swissprot Link
http://www.uniprot.org/uniprot/P03940
免疫原
Synthesized peptide derived from the Internal region of human CYP21A2.
特异性
CYP21A2 Polyclonal Antibody detects endogenous levels of CYP21A2 protein.
稀释度
WB 1:500 - 1:2000. IHC 1:100 - 1:300. ELISA: 1:40000.. IF 1:50-200
宿主
Polyclonal, Rabbit,IgG
背景介绍
cytochrome P450 family 21 subfamily A member 2(CYP21A2) Homo sapiens 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 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; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008],
组织表达
Adrenal gland,PCR rescued clones,Peripheral blood,
细胞定位
Endoplasmic reticulum membrane; Peripheral membrane protein . Microsome membrane ; Peripheral membrane protein .
信号通路
Steroid hormone biosynthesis;
功能
catalytic activity:A steroid + AH(2) + O(2) = a 21-hydroxysteroid + A + H(2)O.,cofactor:Heme group.,disease:Defects in CYP21A2 are the cause of adrenal hyperplasia type 3 (AH3) [MIM:201910]. AH3 is a form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis, 'non-classic form' or late onset (NC or LOAH), and 'cryptic' (asymptomatic).,domain:The leucine-rich hydrophobic amino acid N-terminal region probably helps to anchor the protein to the microsomal membrane.,function:Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids.,miscellaneous:The human genome contains 2 genes, C4A and C4B, for C4 complement component separated by approximately 10 kb. 3'to each of the C4 genes there is a steroid 21-hydroxylase gene. The gene 3'to C4A is a pseudogene.,online information:CYP21A2 alleles,online information:The Singapore human mutation and polymorphism database,similarity:Belongs to the cytochrome P450 family.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.