Primary Identifier | MGI:1915040 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 67790 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable GTP binding activity; GTPase activity; and myosin V binding activity. Involved in synapse organization and vesicle-mediated transport. Located in Golgi apparatus. Is expressed in ganglia and heart. Used to study non-syndromic X-linked intellectual disability 72 and syndromic X-linked intellectual disability. Human ortholog(s) of this gene implicated in Waisman syndrome and non-syndromic X-linked intellectual disability 72. Orthologous to human RAB39B (RAB39B, member RAS oncogene family). PHENOTYPE: Homozygous knockout in females results in increased brain size and decreased body weight and, in hemizygous KO in males, social memory and motor learning deficits. [provided by MGI curators] |