NP_001074597.1
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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
139,069 Da
NCBI Official Full Name
methionine synthase
NCBI Official Synonym Full Names
5-methyltetrahydrofolate-homocysteine methyltransferase
NCBI Protein Information
methionine synthase; vitamin-B12 dependent methionine synthase; 5-methyltetrahydrofolate--homocysteine methyltransferase
UniProt Protein Name
Methionine synthase
UniProt Synonym Protein Names
5-methyltetrahydrofolate--homocysteine methyltransferase; Vitamin-B12 dependent methionine synthase; MS
UniProt Synonym Gene Names
UniProt Entry Name
METH_MOUSE
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: Methyltransferase; Amino Acid Metabolism - cysteine and methionine; Cofactor and Vitamin Metabolism - one carbon pool by folate; EC 2.1.1.13
Cellular Component: cytoplasm; intracellular; cytosol
Molecular Function: transferase activity; amino acid binding; methyltransferase activity; homocysteine S-methyltransferase activity; zinc ion binding; metal ion binding; methionine synthase activity; cobalamin binding; folic acid binding
Biological Process: tetrahydrofolate metabolic process; methylation; cellular metabolic process; protein amino acid methylation; methionine biosynthetic process; pteridine and derivative metabolic process; methionine metabolic process; amino acid biosynthetic process; homocysteine metabolic process
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Pathways associated with MTR elisa kit
Diseases associated with MTR elisa kit
Organs/Tissues associated with MTR elisa kit
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