| Primary Identifier | MGI:1914346 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 67096 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable several functions, including anion binding activity; cyanocobalamin reductase (cyanide-eliminating) activity; and protein homodimerization activity. Predicted to be involved in cobalamin metabolic process; demethylation; and glutathione metabolic process. Located in mitochondrion. Is expressed in several structures, including embryo ectoderm; gut; heart; lung; and mesonephros mesenchyme. Used to study methylmalonic aciduria and homocystinuria type cblC. Human ortholog(s) of this gene implicated in methylmalonic aciduria and homocystinuria type cblC. Orthologous to human MMACHC (metabolism of cobalamin associated C). PHENOTYPE: Homozygous null mice exhibit embryonic lethality before implantation while cultured embryos show delayed blastocyst formation and inability to hatch from the zona and generate giant cells in outgrowth assays. Female heterozygotes show high plasma levels of homocysteine and methylmalonic acid. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
