ITM0455
ITM0455
- Catalog: ITM0455
- Gene/Protein: MTHFR
- Product Description: Immunotag™ MTHFR Monoclonal Antibody
504.0000
Price in reward points: 504
| Antibody Specification | |
| Datasheet | 
|
| Target Protein | MTHFR |
| Clonality | Monoclonal |
| Storage/Stability | -20°C/1 year |
| Application | WB,IHC-p,ELISA |
| Recommended Dilution | Western Blot: 1/500 - 1/2000. Immunohistochemistry: 1/200 - 1/1000. ELISA: 1/10000. Not yet tested in other applications. |
| Concentration | 1 mg/ml |
| Reactive Species | Human,Rat |
| Host Species | Mouse |
| Immunogen | Purified recombinant fragment of human MTHFR expressed in E. Coli. |
| Specificity | MTHFR Monoclonal Antibody detects endogenous levels of MTHFR protein. |
| Purification | Affinity purification |
| Form | Ascitic fluid containing 0.03% sodium azide. |
| Gene Name | MTHFR |
| Accession No. | P42898 Q9WU20 |
| Alternate Names | MTHFR; Methylenetetrahydrofolate reductase |
| Description | methylenetetrahydrofolate reductase(MTHFR) Homo sapiens 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], |
| Cell Pathway/ Category | One carbon pool by folate,Methane metabolism, |
| Protein Expression | Brain,Liver,Lung, |
| Subcellular Localization | cytosol,synapse, |
| Protein 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 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.,enzyme regulation:Allosterically regulated by S-adenosylmethionine.,function:Catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine.,online information:Methylenetetrahydrofolate reductase entry,online information:The Singapore human mutation and polymorphism database,pathway:One-carbon metabolism; tetrahydrofolate pathway.,polymorphism:Genetic variation in MTHFR influences susceptibility to occlusive vascular disease, neural tube defects (NTD), colon cancer and acute leukemia.,similarity:Belongs to the methylenetetrahydrofolate reductase family.,subunit:Homodimer., |
| Usage | For Research Use Only! Not for diagnostic or therapeutic procedures. |
| Material Safety Data Sheet | |
| English_US |
|
| Danish |
|
| Dutch |
|
| English_UK |
|
| French |
|
| German |
|
| Spanish |
|
| Norwegian |
|
| Portuguese |
|
| Finnish |
|
| Swedish |
|
| Polish |
|