| Primary Identifier | MGI:97239 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 17850 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables methylmalonyl-CoA mutase activity. Involved in succinyl-CoA biosynthetic process. Acts upstream of or within post-embryonic development. Located in mitochondrion. Is expressed in several structures, including alimentary system; genitourinary system; lung; nervous system; and trophectoderm. Used to study methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. Human ortholog(s) of this gene implicated in methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency. Orthologous to human MMUT (methylmalonyl-CoA mutase). PHENOTYPE: Homozygous mutant mice die within 1 day of birth exhibiting symptoms similar to those observed in patients with methylmalonic aciduria. [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
