| Primary Identifier | MGI:102790 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 19330 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable GDP binding activity and GTPase activity. Involved in import into nucleus. Predicted to be located in endoplasmic reticulum tubular network and lipid droplet. Predicted to be active in Golgi apparatus and synapse. Is expressed in several structures, including central nervous system; cortical early proximal tubule; heart; limb; and sensory organ. Used to study Warburg micro syndrome 3. Human ortholog(s) of this gene implicated in Warburg micro syndrome 3. Orthologous to human RAB18 (RAB18, member RAS oncogene family). PHENOTYPE: Homozygous null mice show partial perinatal lethality and abnormal eye development, and develop nuclear cataracts, atonic pupils, progressive limb weakness, disruption of neuronal cytoskeleton, and accumulation of neurofilament and microtubule proteins in synaptic terminals. [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
