产品货号 :  mlR1484

英文名称 :  MTHFR

中文名称 :  亚甲基四氢叶酸还原酶MTHFR抗体

别    名 :  5 10 methylenetetrahydrofolate reductase (NADPH); 5 10 methylenetetrahydrofolate reductase; Methylenetetrahydrofolate reductase; Methylenetetrahydrofolate reductase intermediate form; MTHR_HUMAN.  

研究领域 :  信号转导  

抗体来源 :  Rabbit

克隆类型 :  Polyclonal

交叉反应 :   Human, Mouse, Rat, Dog, Pig, Cow, Horse,

产品应用 :  WB=1:500-2000 ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 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 :  75kDa

细胞定位 :  细胞浆

性    状 :  Lyophilized or Liquid

浓    度 :  1mg/ml

免 疫 原 :  KLH conjugated synthetic peptide derived from human MTHFR:165-300/656

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 :   MTHFR catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to neural tube defects, occlusive vascular disease, colon cancer and acute leukemia. Mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.

Function:

Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine.

Subunit:

Homodimer.

DISEASE:

Methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]: Autosomal recessive disorder with a wide range of features including homocysteinuria, homocysteinemia [MIM:603174], developmental delay, severe mental retardation, perinatal death, psychiatric disturbances, and later-onset neurodegenerative disorders. Note=The disease is caused by mutations affecting the gene represented in this entry.

Ischemic stroke (ISCHSTR) [MIM:601367]: A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Folate-sensitive neural tube defects (FS-NTD) [MIM:601634]: The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Similarity:

Belongs to the methylenetetrahydrofolate reductase family.

SWISS:

P42898

Gene ID:

4524

Important Note:

This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.

亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)是叶酸代谢的关键酶,为细胞内的各种甲基化反应提供甲基基团,在DNA甲基化中起重要作用。