胆固醇21-羟化酶抗体
规格：1mg/1ml
英文名： CYP21A2
别名： Cytochrome P450 21; cytochrome P450, family 21, subfamily A, polypeptide 2; 21-OH; 21OHA; 21OHB; CA21H; CAH1; CHOLESTEROL 21-HYDROXYLASE; CPS1; CYP21; Cyp21-ps1; Cyp21a1; CYP21A2; Cyp21a2-ps; CYP21B;
分子量： 54kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human CYP21
交叉反应：Human, Mouse, Rat, Dog, Pig, Cow, Horse,
细胞定位：细胞浆 细胞膜
胆固醇21-羟化酶抗体产品介绍：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 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]. Function: Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids. Subcellular Location: Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein. DISEASE: Defects in 胆固醇21-羟化酶抗体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 ***** stature. Four clinical types: 'salt wasting' (SW, the most severe type), 'simple virilizing' (SV, less severely affected patients), with normal aldosterone biosynthesis,胆固醇21-羟化酶抗体 'non-classic form' or late onset (NC or LOAH), and 'cryptic' (asymptomatic). Similarity: Belongs to the cytochrome P450 family. Gene ID: 1589 Database links: Entrez Gene: 1589 Human Omim: 613815 Human SwissProt: P08686 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
胆固醇21-羟化酶抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：肿瘤 细胞生物
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid