| Primary Identifier | MGI:1929699 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 56350 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables GTPase activity; guanyl ribonucleotide binding activity; and magnesium ion binding activity. Involved in several processes, including Golgi to plasma membrane transport; photoreceptor cell development; and protein localization to ciliary membrane. Acts upstream of or within intraciliary transport and smoothened signaling pathway. Located in axoneme; ciliary basal body; and ciliary transition zone. Is expressed in central nervous system; retina nuclear layer; and skin. Used to study autosomal recessive polycystic kidney disease. Human ortholog(s) of this gene implicated in Joubert syndrome and retinitis pigmentosa 83. Orthologous to human ARL3 (ADP ribosylation factor like GTPase 3). PHENOTYPE: Mice homozygous for a gene trapped allele are born at sub-Mendelian ratios, are small and sickly, fail to thrive, and die by 3 weeks of age exhibiting photoreceptor degeneration and abnormal epithelial cell proliferation and cyst formation in the kidney,liver, and pancreatic tubule structures. [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
