Anti-DMGDH抗体This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycin

产品编号yb-14345R
英文名称 Anti-DMGDH抗体
中文名称 二甲基*脱氢酶抗体
别    名 Dimethylglycine dehydrogenase; Dimethylglycine dehydrogenase, mitochondrial; Dmgdh; M2GD_HUMAN; ME2GLYDH; mitochondrial.
 Anti-DMGDH抗体   
说 明 书 0.1ml  0.2ml  
研究领域 细胞生物  神经生物学  信号转导  新陈代谢  线粒体  
抗体来源 Rabbit
克隆类型 Polyclonal
交叉反应 Human, Mouse, Rat, Dog, Pig, Cow, Horse, Rabbit, Sheep, 
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 91kDa
性    状 Lyophilized or Liquid
浓    度 1mg/1ml
免 疫 原 KLH conjugated synthetic peptide derived from human DMGDH
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.
 
PubMed PubMed
产品介绍 background:
This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. Mutation in this gene causes dimethylglycine dehydrogenase deficiency, characterized by a fishlike body odor, chronic muscle fatigue, and elevated levels of the muscle form of creatine kinase in serum. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

Subcellular Location:
Mitochondrion.
 
DISEASE:
Defects in DMGDH are the cause of DMGDH deficiency (DMGDHD) [MIM:605850]. DMGDHD is a disorder characterized by fish odor, muscle fatigue with increased serum creatine kinase. Biochemically it is characterized by an increase of N,N-dimethylglycine (DMG) in serum and urine.