| 产品编号 | bs-9961R |
| 英文名称 | MMAA/cblA Rabbit pAb |
| 中文名称 | 甲基丙二酸尿症cblA抗体 |
| 别 名 | cblA; MMAA_HUMAN; MMAA; 3.6.-.-; D3ZNY3_RAT; |
| 研究领域 | 肿瘤 细胞生物 免疫学 信号转导 |
| 抗体来源 | Rabbit |
| 克隆类型 | Polyclonal |
| 克 隆 号 | |
| 交叉反应 | Mouse, (predicted: Human, Rat, ) |
| 产品应用 | WB=1:500-2000 ELISA=1:5000-10000
not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. |
| 理论分子量 | 39 kDa |
| 检测分子量 | 39 |
| 细胞定位 | 细胞浆 |
| 性 状 | Liquid |
| 浓 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human MMAA/cblA: 21-120/418 |
| 亚 型 | IgG |
| 纯化方法 | affinity purified by Protein A |
| 缓 冲 液 | 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
| 保存条件 | Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles. |
| 注意事项 | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| PubMed | PubMed |
| 产品介绍 |
The protein encoded by this gene is involved in the translocation of cobalamin into the mitochondrion, where it is used in the final steps of adenosylcobalamin synthesis. Adenosylcobalamin is a coenzyme required for the activity of methylmalonyl-CoA mutase. Defects in this gene are a cause of methylmalonic aciduria. [provided by RefSeq, Jul 2008]. Function: Probable GTPase. May function as chaperone. May be involved in the transport of cobalamin (Cbl) into mitochondria for the final steps of adenosylcobalamin (AdoCbl) synthesis. Subunit: Homodimer. Subcellular Location: Mitochondrion (Probable). Tissue Specificity: Widely expressed. Highest expression is observed in liver and skeletal muscle. DISEASE: Defects in MMAA are the cause of methylmalonic aciduria type cblA (MMAA) [MIM:251100]; also known as methylmalonic aciduria type A or vitamin B12-responsive methylmalonicaciduria of cblA complementation type. MMAA is a disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. Inheritance is autosomal recessive. Similarity: Belongs to the ArgK family. SWISS: Q8IVH4 Gene ID: 166785 Database links: Entrez Gene: 166785 Human Omim: 607481 Human SwissProt: Q8IVH4 Human Unigene: 452864 Human 甲基丙二酸是甲基丙二酰辅酶A的代谢产物，正常情况下在甲基丙二酰 辅酶A变位酶及维生素B12的作用下转化生成琥珀酸，参与三羧酸循环。甲基丙二酰辅酶A变位酶缺陷或维生素B12代谢障碍导致甲基丙二酸、丙酸、甲基枸橼酸等代谢物异常蓄积，琥珀酸脱氢酶活性下降，线粒体能量合成障碍，引起神经、肝脏、肾脏、骨髓等多脏器损伤。患者脑组织病理分析可见脑萎缩、弥漫性神经胶质细胞增生、星形细胞变性、脑出血、苍白球坏死、丘脑及内囊细胞水肿，均与线粒体功能不良有关。 有病理解剖发现患儿神经胶质细胞反应性增生，深部皮质、小脑颗粒层和胶质细胞发育不良，小脑、脑干、颈髓髓鞘化延迟。另有尸检发现肾脏、肺部血栓性毛细血管病、肝脏弥漫性脂肪变性、骨髓巨幼红细胞增生、严重胃黏膜发育不良伴胃炎。这些表现部分为胎儿时期代谢异常所致损害，部分为出生后有机酸毒性损害所致。 |
| 产品图片 |
Sample:
Stomach (Mouse) Lysate at 40 ug
Primary: Anti- MMAA'cblA (bs-9961R) at 1/1000 dilution
Secondary: IRDye800CW Goat Anti-Rabbit IgG at 1/20000 dilution
Predicted band size: 39 kD
Observed band size: 39 kD
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| 1、抗体溶解方法 | |
| 2、抗体修复方式 | |
| 3、常用试剂的配制 | |
| 4、免疫组化操作步骤 | |
| 5、免疫组化问题解答 | |
| 6、Western Blotting 操作步骤 | |
| 7、Western Blotting 问题解答 | |
| 8、关于肽链的设计 | |
| 9、多肽的溶解与保存 | |
| 10、酶标抗体效价测定程序 | |
