| 產(chǎn)品編號(hào) | bs-9808R |
| 英文名稱 | Rabbit Anti-C2ORF25 antibody |
| 中文名稱 | 2號(hào)染色體開放閱讀框25抗體 |
| 別 名 | cblD; Chromosome 2 open reading frame 25; Protein C2orf25, mitochondrial; CL25022; Methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria; Protein C2orf25, mitochondrial; MMAD_HUMAN. |
| 研究領(lǐng)域 | 細(xì)胞生物 免疫學(xué) 線粒體 |
| 抗體來(lái)源 | Rabbit |
| 克隆類型 | Polyclonal |
| 交叉反應(yīng) | (predicted: Human) |
| 產(chǎn)品應(yīng)用 | WB=1:500-2000,IHC-P=1:100-500,IHC-F=1:100-500,IF=1:50-200,ELISA=1:5000-10000
not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. |
| 理論分子量 | 29kDa |
| 細(xì)胞定位 | 細(xì)胞漿 線粒體 |
| 性 狀 | Liquid |
| 濃 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human C2ORF25: 31-130/296 |
| 亞 型 | IgG |
| 純化方法 | affinity purified by Protein A |
| 緩 沖 液 | 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
| 保存條件 | Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles. |
| 注意事項(xiàng) | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| PubMed | PubMed |
| 產(chǎn)品介紹 |
C2ORF25 is a mitochondrial protein and its function is not fully identified. But, Vitamin B12 (cobalamin) is an essential cofactor in several metabolic pathways. Intracellular conversion of cobalamin to adenosylcobalamin in mitochondria and to methylcobalamin in cytoplasm is necessary for homeostasis of methylmalonic acid and homocysteine. C2ORF25 encodes a protein involved in an early step of cobalamin metabolism. Function: nvolved in cobalamin metabolism. Subcellular Location: Mitochondrial. Tissue Specificity: Widely expressed at high levels. DISEASE: Defects in MMADHC are the cause of methylmalonic aciduria and homocystinuria type cblD (MMAHCD) [MIM:277410]. A disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Clinical features include developmental delay, hyotonia, mental retardation, seizures, megaloblastic anemia. Some patients manifest combined methylmalonic aciduria and homocystinuria (referred to as cblD original), some have only isolated homocystinuria (cblD variant 1), and others have only methylmalonic aciduria (cblD variant 2). SWISS: Q9H3L0 Gene ID: 27249 Database links: Entrez Gene: 27249 Human Entrez Gene: 109129 Mouse Omim: 611935 Human SwissProt: Q9H3L0 Human SwissProt: Q99LS1 Mouse Unigene: 5324 Human |
