DISEASES

Disease-gene associations mined from literature

Literature associating MTRR and transcobalamin II deficiency

MTRR [ENSP00000264668]

5-methyltetrahydrofolate-homocysteine methyltransferase reductase; Involved in the reductive regeneration of cob(I)alamin (vitamin B12) cofactor required for the maintenance of methionine synthase in a functional state. Necessary for utilization of methylgroups from the folate cycle, thereby affecting transgenerational epigenetic inheritance. Folate pathway donates methyl groups necessary for cellular methylation and affects different pathways such as DNA methylation, possibly explaining the transgenerational epigenetic inheritance effects.

Synonyms:  MTRR,  D6RAY3,  D6RAZ2,  D6RF21,  D6RGC7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM