NP_000245.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
134,793 Da
NCBI Official Full Name
methionine synthase isoform 1
NCBI Official Synonym Full Names
5-methyltetrahydrofolate-homocysteine methyltransferase
NCBI Protein Information
methionine synthase
UniProt Protein Name
Methionine synthase
UniProt Synonym Protein Names
5-methyltetrahydrofolate--homocysteine methyltransferase; Vitamin-B12 dependent methionine synthase; MS
UniProt Synonym Gene Names
NCBI Summary for MTR
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]
UniProt Comments for MTR
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: Amino Acid Metabolism - cysteine and methionine; Cofactor and Vitamin Metabolism - one carbon pool by folate; EC 2.1.1.13; Methyltransferase
Chromosomal Location of Human Ortholog: 1q43
Cellular Component: cytosol
Molecular Function: cobalamin binding; methionine synthase activity; protein binding; zinc ion binding
Biological Process: axon regeneration; cellular response to nitric oxide; cobalamin metabolic process; methionine biosynthetic process; methylation; nervous system development; pteridine and derivative metabolic process; response to axon injury; sulfur amino acid metabolic process
Disease: Homocystinuria-megaloblastic Anemia, Cblg Complementation Type; Neural Tube Defects, Folate-sensitive
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Products associated with anti-MTR antibody
Pathways associated with anti-MTR antibody
Diseases associated with anti-MTR antibody
Organs/Tissues associated with anti-MTR antibody
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