Primary Identifier | MGI:892995 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 13002 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable ATP-dependent protein binding activity. Involved in chaperone-mediated protein folding and regulation of synaptic vesicle cycle. Acts upstream of or within negative regulation of neuron apoptotic process. Located in synaptic vesicle. Is active in neuromuscular junction and presynapse. Human ortholog(s) of this gene implicated in neuronal ceroid lipofuscinosis 4. Orthologous to human DNAJC5 (DnaJ heat shock protein family (Hsp40) member C5). PHENOTYPE: Mice homozygous for disruptions in this gene die within the first 3 months of live and abnormalities in their neuromuscular synapses. This results in various defects in movement and coordination. [provided by MGI curators] |