產品貨號 :  mlR1484

英文名稱 :  MTHFR

中文名稱 :  亞甲基四氫葉酸還原酶MTHFR抗體

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

研究領域 :  信號轉導  

抗體來源 :  Rabbit

克隆類型 :  Polyclonal

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

產品應用 :  WB=1:500-2000 ELISA=1:500-1000 IHC-P=1:400-800 IHC-F=1:400-800 IF=1:100-500 （石蠟切片需做抗原修復）
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.

分 子 量 :  75kDa

細胞定位 :  細胞漿

性    狀 :  Lyophilized or Liquid

濃    度 :  1mg/ml

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

亞    型 :  IgG

純化方法 :  affinity purified by Protein A

儲 存 液 :  0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.

保存條件 :  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

產品介紹 :   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.

亞甲基四氫葉酸還原酶(methylenetetrahydrofolate reductase,MTHFR)是葉酸代謝的關鍵酶,為細胞內的各種甲基化反應提供甲基基團,在DNA甲基化中起重要作用。