Reactive species
Human;Rat
Applications
WB;IHC;IF;ELISA
Antibody type
Monoclonal antibodies
Protein name
Methylenetetrahydrofolate reductase
Immunogen
Purified recombinant fragment of human MTHFR expressed in E. Coli.
Specificity
MTHFR Monoclonal Antibody detects endogenous levels of MTHFR protein.
Constitute
Ascitic fluid containing 0.03% sodium azide,0.5% BSA, 50%glycerol.
Dilution rate
WB: 1/500 - 1/2000. IHC: 1/200 - 1/1000. ELISA: 1/10000.. IF 1:50-200
Purification process
Affinity purification
Other name
MTHFR; Methylenetetrahydrofolate reductase
Background
The protein encoded by this gene 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 occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009],
Function
catalytic activity:5-methyltetrahydrofolate + NAD(P)(+) = 5,10-methylenetetrahydrofolate + NAD(P)H.,cofactor:FAD.,disease:Defects in MTHFR are the cause of methylenetetrahydrofolate reductase deficiency (MTHFRD) [MIM:236250]. MTHFRD is 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.,disease:Defects in MTHFR may be a cause of susceptibility to folate-sensitive neural tube defects (folate-sensitive NTD) [MIM:601634]. The most common NTDs are open spina bifida (myelomeningocele) and anencephaly.,disease:Defects in MTHFR may be a cause of susceptibility to ischemic stroke [MIM:601367]; also known as cerebrovascular accident or cerebral infarction. A stroke is an acute neurologic event leadin
