Primary Identifier | MGI:1917285 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 100972 |
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; GTP binding activity; and GTPase activity. Predicted to be involved in intracellular protein transport. Predicted to be located in ciliary basal body and ciliary rootlet. Predicted to be active in endomembrane system. Is expressed in bone; limb; limb bud; and naris. Used to study cone-rod dystrophy 18. Human ortholog(s) of this gene implicated in cone-rod dystrophy 18. Orthologous to human RAB28 (RAB28, member RAS oncogene family). PHENOTYPE: Homozygous inactivation of this gene leads to reduced cone and rod ERG responses, defects in cone-specific disc shedding and phagocytosis, and progressive retina degeneration. [provided by MGI curators] |