Methylenetetrahydrofolate Reductase (MTHFR) Antibody – Rabbit Polyclonal

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: 4 E2|4 78.67 cM

Cellular Component: cytosol; synapse

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

Biological Process: homocysteine metabolic process; methionine biosynthetic process; methionine metabolic process; one-carbon compound metabolic process; regulation of histone methylation; tetrahydrofolate metabolic process