Target：MTHFR

Fields：One carbon pool by folate;Metabolic pathways;Antifolate resistance

Gene Name：MTHFR

Protein Name：Methylenetetrahydrofolate reductase

Human Gene Id：4524

Human Swiss Prot No：P42898

Mouse Gene Id：17769

Mouse Swiss Prot No：Q9WU20

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.

Source：Polyclonal, Rabbit,IgG

Dilution：WB 1:500-2000;IHC 1:50-300; ELISA 2000-20000

Purification：The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

Concentration：1 mg/ml

Storage Stability：-15°C to -25°C/1 year(Do not lower than -25°C)

Other Name：MTHFR;Methylenetetrahydrofolate reductase

Observed Band(KD)：75kD

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

Subcellular Location：cytosol,synapse,

Expression： Brain,Liver,Lung,