甲基丙二酸尿症和高胱氨酸尿症C型蛋白同源抗体
规格：1mg/1ml
英文名： MMACHC
别名： 1810037K07Rik; BOS_3654; cblC; DKFZp564I122; FLJ25671; Methylmalonic aciduria (cobalamin deficiency) cblC type with homocystinuria; Methylmalonic aciduria and homocystinuria type C protein; Methylmalo
分子量： 32kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human MMACHC
交叉反应：Human, Mouse, Rat, Dog, Cow, Horse, Sheep,
细胞定位：
甲基丙二酸尿症和高胱氨酸尿症C型蛋白同源抗体产品介绍：background: The exact function of the protein encoded by this gene is not known, however, its C-terminal region shows similarity to TonB, a bacterial protein involved in energy transduction for cobalamin (vitamin B12) uptake. Hence, it is postulated that this protein may have a role in the binding and intracellular trafficking of cobalamin. Mutations in this gene are associated with methylmalonic aciduria and homocystinuria type cblC. [provided by RefSeq, Oct 2009] Function: May be involved in the binding and intracellular trafficking of cobalamin (vitamin B12). Tissue Specificity: Widely expressed. Expressed at higher level in fetal liver. Also expressed in spleen, lymph node, thymus and bone marrow. Weakly or not expressed in peripheral blood leukocytes. DISEASE: Defects in 甲基丙二酸尿症和高胱氨酸尿症C型蛋白同源抗体MMACHC are the cause of methylmalonic aciduria and homocystinuria type cblC (MMACHC) [MIM:277400]. MMACHC is a disorder of cobalamin metabolism characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in *****hood. Similarity: Belongs to甲基丙二酸尿症和高胱氨酸尿症C型蛋白同源抗体 the MMACHC family. Gene ID: 25974 Database links: Entrez Gene: 513433 Cow Entrez Gene: 25974 Human Entrez Gene: 67096 Mouse Entrez Gene: 313520 Rat Omim: 609831 Human SwissProt: Q5E9C8 Cow SwissProt: Q9Y4U1 Human SwissProt: Q9CZD0 Mouse Unigene: 13024 Human Important Note: This 甲基丙二酸尿症和高胱氨酸尿症C型蛋白同源抗体product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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.
研究领域：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