5-Methyltetrahydrofolate-Homocysteine Methyltransferase (MTR) ELISA Kit for Human

This gene encodes the 5-methyltetrahydrofolate-homocysteine methyltransferase. This enzyme, also known as cobalamin-dependent methionine synthase, catalyzes the final step in methionine biosynthesis. Mutations in MTR have been identified as the underlying cause of methylcobalamin deficiency complementation group G. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, May 2014]

MTR: Catalyzes the transfer of a methyl group from methyl- cobalamin to homocysteine, yielding enzyme-bound cob(I)alamin and methionine. Subsequently, remethylates the cofactor using methyltetrahydrofolate. Defects in MTR are the cause of methylcobalamin deficiency type G (cblG); also known as homocystinuria-megaloblastic anemia complementation type G. It is an autosomal recessive inherited disease that causes mental retardation, macrocytic anemia, and homocystinuria. Mild deficiency in MS activity could be associated with mild hyperhomocysteinemia, a risk factor for cardiovascular disease and possibly neural tube defects. MS mutations could also be involved in tumorigenesis. Defects in MTR 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. Genetic defects in MTR may affect the risk of spina bifida via the maternal rather than the embryonic genotype. Belongs to the vitamin-B12 dependent methionine synthase family.

Protein type: EC 2.1.1.13; Amino Acid Metabolism - cysteine and methionine; Cofactor and Vitamin Metabolism - one carbon pool by folate; Methyltransferase

Chromosomal Location of Human Ortholog: 1q43

Cellular Component: cytoplasm; cytosol

Molecular Function: protein binding; homocysteine S-methyltransferase activity; zinc ion binding; cobalamin binding; methionine synthase activity

Biological Process: methylation; nervous system development; vitamin metabolic process; methionine biosynthetic process; cobalamin metabolic process; sulfur amino acid metabolic process; xenobiotic metabolic process; pteridine and derivative metabolic process; water-soluble vitamin metabolic process

Disease: Homocystinuria-megaloblastic Anemia, Cblg Complementation Type; Neural Tube Defects, Folate-sensitive