| Primary Identifier | MGI:1921341 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 74091 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables N-acetylneuraminate lyase activity. Predicted to be involved in N-acetylneuraminate catabolic process. Predicted to act upstream of or within carbohydrate metabolic process. Predicted to be located in cytoplasm. Is expressed in early embryo; eye; and nervous system. Orthologous to human NPL (N-acetylneuraminate pyruvate lyase). PHENOTYPE: Homozygous mutation of this gene results in increased serum cholesterol levels and immunological abnormalities. Homozygosity for the p.R63C mutation or KO leads to impaired mitochondrial respiration, leading to reduced skeletal muscle strength, endurance and regeneration capacity. [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
