Recombinant Human Methionine synthase (MTR), Truncated

Uniprot Id

Q99707

Target Species

Human

Target Name

MTR

Target Full Name

Methionine synthase

Target Function

Catalyzes the transfer of a methyl group from methylcob(III)alamin (MeCbl) to homocysteine, yielding enzyme-bound cob(I)alamin and methionine in the cytosol. MeCbl is an active form of cobalamin (vitamin B12) used as a cofactor for methionine biosynthesis. Cob(I)alamin form is regenerated to MeCbl by a transfer of a methyl group from 5-methyltetrahydrofolate. The processing of cobalamin in the cytosol occurs in a multiprotein complex composed of at least MMACHC, MMADHC, MTRR (methionine synthase reductase) and MTR which may contribute to shuttle safely and efficiently cobalamin towards MTR in order to produce methionine.

Target Involvement

Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG); Neural tube defects, folate-sensitive (NTDFS)

Target Subcellular Location

Cytoplasm.

Target Protein Families

Vitamin-B12 dependent methionine synthase family

Target Tissue Specificity

Widely expressed. Expressed at the highest levels in pancreas, heart, brain, skeletal muscle and placenta. Expressed at lower levels in lung, liver and kidney.

Target Research Area

Epigenetics and Nuclear Signaling

Target Synonyms

MTRMethionine synthase; EC 2.1.1.13; 5-methyltetrahydrofolate--homocysteine methyltransferase; Vitamin-B12 dependent methionine synthase; MS

Target Background

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.