Primary Identifier | MGI:88281 | Organism | mouse, laboratory |
Chromosome | 8 | NCBI Gene Number | 12404 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables identical protein binding activity. Involved in several processes, including cerebellar granule cell differentiation; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; and regulation of synapse assembly. Acts upstream of or within establishment of localization in cell; positive regulation of synapse assembly; and protein secretion. Located in extracellular region and postsynaptic membrane. Is active in glutamatergic synapse; parallel fiber to Purkinje cell synapse; and synaptic cleft. Is expressed in several structures, including central nervous system; limb; oral region epithelium; reproductive system; and sensory organ. Orthologous to human CBLN1 (cerebellin 1 precursor). PHENOTYPE: Homozygous mutation of this gene results in ataxia, impaired coordination, and abnormal Purkinje cell excitatory postsynaptic currents and innervation. [provided by MGI curators] |