| Primary Identifier | MGI:105068 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 19349 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.4.0) Predicted to enable several functions, including guanyl ribonucleotide binding activity; retromer complex binding activity; and small GTPase binding activity. Involved in lipophagy; neurotransmitter receptor transport, postsynaptic endosome to lysosome; and vesicle-mediated transport in synapse. Acts upstream of or within with a positive effect on establishment of vesicle localization. Located in several cellular components, including late endosome membrane; lipid droplet; and phagophore assembly site membrane. Is active in glutamatergic synapse and lysosome. Colocalizes with lysosomal membrane. Is expressed in several structures, including 1-cell stage embryo; cerebral cortex; lung mesenchyme; oocyte; and primitive endoderm. Used to study Charcot-Marie-Tooth disease type 2B. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2B. Orthologous to human RAB7A (RAB7A, member RAS oncogene family). PHENOTYPE: Mice homozygous for a targeted alleles exhibit abnormal endocytosis within the visceral endoderm, failure of elongation along the primitive streak and incomplete gastrulation. [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
