| Primary Identifier | MGI:97305 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 18010 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables exo-alpha-sialidase activity. Predicted to be involved in several processes, including ganglioside catabolic process; positive regulation of neuron projection development; and regulation of myoblast proliferation. Predicted to act upstream of or within carbohydrate metabolic process and lipid catabolic process. Located in lysosome. Is expressed in alimentary system; brain; intestine; midgut; and midgut loop. Used to study glycoproteinosis. Human ortholog(s) of this gene implicated in mucolipidosis. Orthologous to human NEU1 (neuraminidase 1). PHENOTYPE: Nullizygous mice develop features of early-onset lysosomal storage disease (sialidosis), including severe nephropathy, edema, splenomegaly, kyphosis and oligosacchariduria, and display myoclonus, lordosis, extramedullary hematopoiesis, dyspnea, weight loss, gait defects, tremors and premature death. [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
