| Primary Identifier | MGI:1313261 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 20743 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) A structural constituent of postsynapse. Involved in postsynapse organization and regulation of postsynaptic specialization assembly. Acts upstream of or within adult behavior; cerebellar Purkinje cell layer morphogenesis; and synapse assembly. Located in apical plasma membrane and neuronal cell body. Is active in several cellular components, including parallel fiber to Purkinje cell synapse; paranodal junction; and postsynaptic spectrin-associated cytoskeleton. Is expressed in several structures, including alimentary system; central nervous system; eye; genitourinary system; and skin. Used to study spinocerebellar ataxia type 5. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 14 and spinocerebellar ataxia type 5. Orthologous to human SPTBN2 (spectrin beta, non-erythrocytic 2). PHENOTYPE: Homozygous hypomorphic mutants exhibit a progressive ataxic phenotype with gait abnormalities, tremor, deteriorating motor coordination, Purkinje cell loss, and cerebellar atrophy (molecular layer thinning) and age-related reduction in simple firing ratein surviving Purkinje cells. [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
