Molecular weight (DA)
75kD
Immunogen
The antiserum was produced against synthesized peptide derived from human MTHFR. AA range:314-363
Specificity
MTHFR Polyclonal Antibody detects endogenous levels of MTHFR protein.
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB 1:500-2000;IHC-p 1:50-300; ELISA 2000-20000
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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
Protein name
Methylenetetrahydrofolate reductase
Other name
MTHFR; Methylenetetrahydrofolate reductase
Fields
>>One carbon pool by folate;>>Metabolic pathways;>>Antifolate resistance
Human protein sequence Database
P42898
Mouse protein sequence database
Q9WU20
Rat protein sequence database
Cellular localization
cytosol,synapse,
Tissue expression
Brain,Liver,Lung,
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