| Primary Identifier | MGI:1277223 | Organism | mouse, laboratory |
| Chromosome | 5 | NCBI Gene Number | 20239 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable epidermal growth factor receptor binding activity and mRNA binding activity. Acts upstream of or within several processes, including homeostasis of number of cells; neuromuscular process; and neuron differentiation. Located in perinuclear region of cytoplasm. Is expressed in several structures, including alimentary system; central nervous system; sensory organ; spleen; and submandibular gland primordium. Used to study spinocerebellar ataxia type 2. Human ortholog(s) of this gene implicated in late onset Parkinson's disease and spinocerebellar ataxia type 2. Orthologous to human ATXN2 (ataxin 2). PHENOTYPE: Homozygous mice exhibit an enlarged fat pad, hepatic steatosis and enlarged seminal vesicles. A mild defect in motor learning is seen, but no other notable behavioral or neurological defects are detectable. [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
