甲基丙二酸尿症肠产濒础抗体
规格：1尘驳/1尘濒
英文名： MMAA/cblA
别名： mitochondrial; cblA; MMAA protein; Methylmalonic aciduria (cobalamin deficiency) cblA type; Methylmalonic aciduria (cobalamin deficiency) type A; Methylmalonic aciduria type A protein; Methylmalonic a
分子量： 39kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：笔辞濒测肠濒辞苍补濒
亚型：滨驳骋
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human MMAA/cbl
交叉反应：Human, Mouse, Rat,
细胞定位：细胞浆
甲基丙二酸尿症肠产濒础抗体产物介绍：background: 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甲基丙二酸尿症肠产濒础抗体 a disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. Inheritance is autosomal recessive. Similarity: Belongs to the ArgK family. Database links: Entrez Gene: 166785 Human Entrez Gene: 291939 Rat Omim: 607481 Human SwissProt: Q8IVH4 Human SwissProt: D3ZNY3 Rat Unigene: 452864 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. 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甲基丙二酸尿症肠产濒础抗体、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**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**，小脑、脑干、颈髓髓鞘化延迟。另有尸检发现肾脏、肺部血栓性****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**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。
甲基丙二酸尿症肠产濒础抗体产物应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=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 **学 信号转导
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid