| Primary Identifier | MGI:1920455 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 73205 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables small GTPase binding activity. Involved in several processes, including axon extension; late endosome to lysosome transport; and regulation of synaptic vesicle cycle. Located in several cellular components, including extracellular space; perikaryon; and presynapse. Is active in glutamatergic synapse; hippocampal mossy fiber to CA3 synapse; and postsynapse. Is expressed in several structures, including adipose tissue; alimentary system; genitourinary system; nervous system; and sensory organ. Used to study autoimmune disease. Human ortholog(s) of this gene implicated in frontotemporal dementia and/or amyotrophic lateral sclerosis 1. Orthologous to human C9orf72 (C9orf72-SMCR8 complex subunit). PHENOTYPE: Nullizygous mice show splenomegaly and lymphadenopathy. Homozygotes for one allele show reduced body weight, hematocrit and hemoglobin content, lymphopenia, neutrophilia, social interaction deficits and premature death. Homozygotes for another allele show altered macrophage and microglia physiology. [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
