MTHFR Antibody – Mouse Monoclonal

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]

MTHFR: Catalyzes the conversion of 5,10- methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co- substrate for homocysteine remethylation to methionine. Defects in MTHFR are the cause of methylenetetrahydrofolate reductase deficiency (MTHFRD). MTHFRD is autosomal recessive disorder with a wide range of features including homocysteinuria, homocysteinemia, developmental delay, severe mental retardation, perinatal death, psychiatric disturbances, and later-onset neurodegenerative disorders. Defects in MTHFR may be a cause of susceptibility to ischemic stroke (ISCHSTR); 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. Defects in MTHFR may be a cause of susceptibility to folate-sensitive neural tube defects (FS-NTD). The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. Belongs to the methylenetetrahydrofolate reductase family.

Protein type: Cofactor and Vitamin Metabolism - one carbon pool by folate; EC 1.5.1.20; Energy Metabolism - methane; Oxidoreductase

Chromosomal Location of Human Ortholog: 1p36.22

Cellular Component: cytosol

Molecular Function: FAD binding; methylenetetrahydrofolate reductase (NADPH) activity; protein complex binding

Biological Process: amino acid metabolic process; blood circulation; folic acid metabolic process; homocysteine metabolic process; methionine metabolic process; regulation of histone methylation

Disease: Homocystinuria Due To Deficiency Of N(5,10)-methylenetetrahydrofolate Reductase Activity; Neural Tube Defects, Folate-sensitive; Schizophrenia; Thrombophilia Due To Thrombin Defect