Primary Identifier | MGI:894292 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 238505 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables methionine synthase activity. Involved in cobalamin metabolic process. Acts upstream of or within methionine biosynthetic process. Predicted to be active in cytosol. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in several diseases, including IgA glomerulonephritis; artery disease (multiple); autistic disorder; hematologic cancer (multiple); and hyperhomocysteinemia. Orthologous to human MTR (5-methyltetrahydrofolate-homocysteine methyltransferase). PHENOTYPE: Mice homozygous for a targeted null mutation exhibit embryonic lethality prior to E9.5. Heterozygous appear mostly similar to conrtols, except that they exhibit elevated plasma methionine and homocysteine levels. [provided by MGI curators] |