| Primary Identifier | MGI:97306 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 18015 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables GTPase activator activity. Involved in negative regulation of fibroblast proliferation and regulation of postsynapse organization. Acts upstream of or within several processes, including modulation of chemical synaptic transmission; negative regulation of cell development; and nervous system development. Located in cytoplasm. Is active in glutamatergic synapse. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; heart; and integumental system. Used to study juvenile myelomonocytic leukemia; malignant peripheral nerve sheath tumor; and neurofibromatosis 1. Human ortholog(s) of this gene implicated in several diseases, including Watson syndrome; autistic disorder; hematologic cancer (multiple); neurofibromatosis 1 (multiple); and peripheral nervous system neoplasm (multiple). Orthologous to human NF1 (neurofibromin 1). PHENOTYPE: Homozygous embryos die by day 14.5 with enlarged head and chest, pale liver, microphthalmia, cardiac defects and delayed organ development. Heterozygotes have elevated astrocyte number, predisposition to multiple tumor types and learning/memory deficits. [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
