MMAA/cblA,甲基丙二酸尿症cblA抗体

产品编号HZ-9961R
英文名称MMAA/cblA
中文名称甲基丙二酸尿症cblA抗体
别 名mitochondrial; cblA; MMAA protein; Methylmalonic aciduria (cobalamin deficiency) cblA type; Methylmalonic aciduria (cobalamin deficiency) type A; Methylmalonic aciduria type A protein; Methylmalonic aciduria type A protein mitochondrial; MMAA; MMAA_HUMAN.
说 明 书0.1ml 0.2ml
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
交叉反应 Human, Mouse, Rat,
MMAA/cblA,甲基丙二酸尿症cblA抗体产品应用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.
分 子 量39kDa
细胞定位细胞浆
性 状Lyophilized or Liquid
浓 度1mg/1ml
免 疫 原KLH conjugated synthetic peptide derived from human MMAA/cblA
亚 型IgG
纯化方法affinity purified by Protein A
储 存 液0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
MMAA/cblA,甲基丙二酸尿症cblA抗体PubMedPubMed
产品介绍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 a disorder of methylmalonate and cobalamin metabolism due to defective synthesis of adenosylcobalamin. Inheritance is autosomal recessive.

Similarity:
Belongs to the ArgK family.

MMAA/cblA,甲基丙二酸尿症cblA抗体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、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。MMAA/cblA,甲基丙二酸尿症cblA抗体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。