Primary Identifier | MGI:1858201 | Organism | mouse, laboratory |
Chromosome | 11 | NCBI Gene Number | 53321 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable SH3 domain binding activity. Involved in several processes, including cell-cell junction organization; protein localization to axon; and synapse organization. Acts upstream of or within neuron projection development. Located in paranode region of axon and septate junction. Is active in glutamatergic synapse. Is expressed in optic nerve; sciatic nerve; and spinal cord. Human ortholog(s) of this gene implicated in lethal congenital contracture syndrome. Orthologous to human CNTNAP1 (contactin associated protein 1). PHENOTYPE: Homozygous mutant mice exhibit reduced body size and nervous system defects, including impaired balance, hypoactivity, and ataxia. [provided by MGI curators] |