| Primary Identifier | MGI:2447813 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 321007 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Acts upstream of or within extracellular matrix organization. Located in endoplasmic reticulum membrane; extracellular matrix; and mitochondrial outer membrane. Used to study 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome. Human ortholog(s) of this gene implicated in 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome. Orthologous to human SERAC1 (serine active site containing 1). PHENOTYPE: Mice homozygous for a null allele exhibit 3-methylgutaconic aciduria, deafness, dystonia, hepatopathy including impaired mitochondrial oxidative phosphorylation, encephalopathy, Leigh-like syndrome and cardiomyopathy. [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
