| 别名 | CYP27A1;CYP27;Sterol 26-hydroxylase;mitochondrial;5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol 27-hydroxylase;Cytochrome P-450C27/25;Cytochrome P450 27;Sterol 27-hydroxylase;Vitamin D;3;25-hydroxylase |
| 基因名称 | CYP27A1 |
| 蛋白名称 | Sterol 26-hydroxylase mitochondrial |
| 推荐应用 | |
| 反应物种 | Human,Mouse,Rat |
| 存储缓冲液 | PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA |
| Human Swissprot No. | Q02318 |
| Mouse Swissprot No. | Q9DBG1 |
| 特异性 | Endogenous |
| 稀释度 | IHC-P 1:200-1:1000;WB 1:2000-1:10000;IF-P/IF-F/IF-ICC 1:200-1:1000;ELISA 1:5000-1:20000; |
| 参考分子量 | 55kDa |
| 预测分子量 | 60kDa |
| 运输及保存条件 | Biological ice bag transportation. Store at -20°C for at least 12 months(Do not lower than -25°C). Avoid freeze/thaw cycles |
| 宿主 | Rabbit |
| 同种型 | IgG,Kappa |
| 背景介绍 | cytochrome P450 family 27 subfamily A member 1(CYP27A1) 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 mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008], |
| 细胞定位 | Mitochondrion inner membrane ; Peripheral membrane protein . Post-translationally targeted to mitochondria. All three of the receptor proteins in the TOM complex, TOMM70, TOMM20 and TOMM22 are required for the translocation across the mitochondrial outer membrane. After translocation into the matrix, associates with the inner membrane as a membrane extrinsic protein. . |
| 功能 | Catalytic activity:5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol + NADPH + O(2) = (25R)-5-beta-cholestane-3-alpha,7-alpha,12-alpha,26-tetraol + NADP(+) + H(2)O.,cofactor:Heme group.,Disease:Defects in CYP27A1 are the cause of cerebrotendinous xanthomatosis (CTX) [MIM:213700]. CTX is a rare sterol storage disorder characterized clinically by progressive neurologic dysfunction, premature atherosclerosis, and cataracts.,Function:Catalyzes the first step in the oxidation of the side chain of sterol intermediates; the 27-hydroxylation of 5-beta-cholestane-3-alpha,7-alpha,12-alpha-triol. Has also a vitamin D3-25-hydroxylase activity.,pathway:Hormone biosynthesis; cholecalciferol biosynthesis.,similarity:Belongs to the cytochrome P450 family., |
| Clonality | Monoclonal |
| 细胞定位 | Mitochondrion inner membrane ; Peripheral membrane protein . Post-translationally targeted to mitochondria. All three of the receptor proteins in the TOM complex, TOMM70, TOMM20 and TOMM22 are required for the translocation across the mitochondrial outer membrane. After translocation into the matrix, associates with the inner membrane as a membrane extrinsic protein. . |
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