Primary Identifier | MGI:2445001 | Organism | mouse, laboratory |
Chromosome | 1 | NCBI Gene Number | 226407 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.3.0) Predicted to enable GTPase activator activity and small GTPase binding activity. Predicted to contribute to guanyl-nucleotide exchange factor activity. Involved in excitatory postsynaptic potential; modulation of chemical synaptic transmission; and positive regulation of gene expression. Predicted to be located in several cellular components, including endoplasmic reticulum tubular network; excitatory synapse; and lipid droplet. Predicted to be part of protein-containing complex. Is expressed in several structures, including brain and neural retina. Human ortholog(s) of this gene implicated in Warburg micro syndrome 1. Orthologous to human RAB3GAP1 (RAB3 GTPase activating protein catalytic subunit 1). PHENOTYPE: Mice homozygous for a null mutation display abnormal synaptic transmission but have normal gross brain morphology. [provided by MGI curators] |