Reactome | MTR transfers CH3 group from 5-methyl-THF to cob(I)alamin

MTR transfers CH3 group from 5-methyl-THF to cob(I)alamin

Stable Identifier

R-HSA-3149539

Type

Reaction [transition]

Species

Homo sapiens

Compartment

cytosol

ReviewStatus

5/5

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MTR transfers CH3 group from 5-methyl-THF to cob(I)alamin

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Methionine synthase (MTR) mediates the continuous shuttling of cobalamin (Cbl) between two forms, cob(I)alamin and MeCbl. In this half reaction, the methyl group from 5 methyltetrahydrofolate (5-methyl-THF) is transferred to enzyme bound cob(I)alamin to form MeCbl (Hall et al. 2000). Defects in MTR cause methylcobalamin deficiency type G (cblG, methionine synthase deficiency; MIM:250940), an autosomal recessive inherited disease that causes mental retardation, macrocytic anemia, and homocystinuria (Leclerc et al. 1996).

Literature References

PubMed ID	Title	Journal	Year
8968737	Human methionine synthase: cDNA cloning and identification of mutations in patients of the cblG complementation group of folate/cobalamin disorders Ross, M, Adjalla, CE, Eydoux, P, Gravel, RA, Rosenblatt, DS, Christensen, B, Leclerc, D, Campeau, E, Rozen, R, Goyette, P	Hum Mol Genet	1996