Literature summary for 2.1.1.13 extracted from

Fofou-Caillierez, M.B.; Mrabet, N.T.; Chery, C.; Dreumont, N.; Flayac, J.; Pupavac, M.; Paoli, J.; Alberto, J.M.; Coelho, D.; Camadro, J.M.; Feillet, F.; Watkins, D.; Fowler, B.; Rosenblatt, D.S.; Gueant, J.L.
Interaction between methionine synthase isoforms and MMACHC: characterization in cblG-variant, cblG and cblC inherited causes of megaloblastic anaemia (2013), Hum. Mol. Genet., 22, 4591-4601.

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Application

Application	Comment	Organism
medicine	fibroblasts of patients with cblG-variant megaloblastic anaemia, i.e. undetectable methionine synthase activity, show decreased conversion of cyanocobalamin to hydroxocobalamin, similar to that observed in cblC fibroblasts. Alternative splicing in cells from the cblG variant produces an MTR-201 transcript that encodes a truncated methionine synthase, and a MTR-001 transcript with two insertions containing stop codons. Interactions between methionine synthase and cytosolic cobalamin trafficking chaperone MMACHC suggest a regulatory role of methionine synthase in the intracellular metabolism of cobalamin, through splicing of two transcripts that encode the full-size enzyme and a non-functional truncated protein, respectively	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

General Information

General Information	Comment	Organism
physiological function	the interaction of methionine synthase with cytosolic cobalamin trafficking chaperone MMACHC may play a role in the regulation of the cellular processing of cobalamins that is required for cobalamin cofactor synthesis	Homo sapiens

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Release 2023.1 (January 2023)