Gene: MTR

Alternate names for this Gene: HMAG|MS|cblG

Gene Summary: 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.

Gene is located in Chromosome: 1

Location in Chromosome : 1q43

Description of this Gene: 5-methyltetrahydrofolate-homocysteine methyltransferase

Type of Gene: protein-coding

rs2275565 in MTR gene and Homocysteine measurement PMID 23824729 2013 Common genetic loci influencing plasma homocysteine concentrations and their effect on risk of coronary artery disease.

rs121913578 in MTR gene and Methylcobalamin Deficiency, CblG Type PMID 8968737 1996 Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders.

PMID 8968736 1996 Defects in human methionine synthase in cblG patients.

PMID 12068375 2002 Hyperhomocysteinemia due to methionine synthase deficiency, cblG: structure of the MTR gene, genotype diversity, and recognition of a common mutation, P1173L.