Primary Identifier | MGI:104727 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 12889 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables lipid binding activity. Involved in regulation of vesicle-mediated transport and signal release. Part of SNARE complex. Is active in several cellular components, including Schaffer collateral - CA1 synapse; calyx of Held; and glutamatergic synapse. Is expressed in nervous system; retina; and tongue. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 63. Orthologous to human CPLX1 (complexin 1). PHENOTYPE: Mice homozygous for disruptions of this gene suffer from ataxia, are unable to reproduce, and die within 2-4 months of age. [provided by MGI curators] |