Primary Identifier | MGI:2444672 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 228355 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.4.0) Predicted to enable guanyl-nucleotide exchange factor activity. Involved in anterograde synaptic vesicle transport; execution phase of apoptosis; and regulation of cell cycle. Acts upstream of or within negative regulation of apoptotic signaling pathway. Predicted to be located in plasma membrane and synaptic vesicle. Predicted to be active in cytosol and synapse. Is expressed in cerebral cortex; nervous system; sensory organ; and tongue. Used to study type 2 diabetes mellitus. Orthologous to human MADD (MAP kinase activating death domain). PHENOTYPE: Mice homozygous for a knock-out allele die shortly after birth due to respiratory failure, are hyporesponsive to tactile stimuli, and exhibit defects in neurotransmitter release with impaired synaptic vesicle trafficking and depletion of synaptic vesicles at the neuromuscular junction. [provided by MGI curators] |