Primary Identifier | MGI:101765 | Organism | mouse, laboratory |
Chromosome | 5 | NCBI Gene Number | 12568 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including Hsp90 protein binding activity; acetylcholine receptor activator activity; and signaling receptor binding activity. Involved in regulation of dendritic spine morphogenesis; regulation of glutamatergic synaptic transmission; and regulation of protein localization to plasma membrane. Acts upstream of or within several processes, including chemical synaptic transmission; nervous system development; and protein phosphorylation. Located in several cellular components, including axon; filopodium; and lamellipodium. Part of protein kinase 5 complex. Is expressed in several structures, including alimentary system; genitourinary system; limb; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Alzheimer's disease and lissencephaly 7 with cerebellar hypoplasia. Orthologous to human CDK5 (cyclin dependent kinase 5). PHENOTYPE: Homozygous mutation of this gene results in perinatal lethality and abnormalities of the cerebellum and nervous system. Mutant mice are cyanotic, hypoactive, exhibit shallow breathing, and fail to suckle. [provided by MGI curators] |