Primary Identifier | MGI:1891037 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 210009 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables [methionine synthase] reductase (NADPH) activity. Involved in S-adenosylmethionine cycle; sulfur amino acid metabolic process; and water-soluble vitamin metabolic process. Predicted to be located in intermediate filament cytoskeleton and nucleoplasm. Predicted to be active in cytosol. Is expressed in several structures, including gut; neural ectoderm; notochord; optic vesicle; and placenta. Human ortholog(s) of this gene implicated in several diseases, including abdominal aortic aneurysm; endocrine gland cancer (multiple); heart disease (multiple); hematologic cancer (multiple); and homocystinuria. Orthologous to human MTRR (5-methyltetrahydrofolate-homocysteine methyltransferase reductase). PHENOTYPE: Mice homozygous for a hypomorphic gene trap allele are viable and display a male-specific reduction in postnatal weight gain as well as hyperhomocysteinemia, hypomethionemia, increased tissue methyltetrahydrofolate, and AdoMet/AdoHcy ratios that range from high to slightly below normal. [provided by MGI curators] |