MTHFR Antibody – Polyclonal

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

Chromosomal Location of Human Ortholog: 1p36.3

Cellular Component: neuron projection; cytosol

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

Biological Process: amino acid metabolic process; response to drug; vitamin metabolic process; methionine biosynthetic process; blood circulation; response to folic acid; response to vitamin B2; response to hypoxia; S-adenosylmethionine metabolic process; one-carbon compound metabolic process; folic acid metabolic process; homocysteine metabolic process; water-soluble vitamin metabolic process

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