Primary Identifier | MGI:1096391 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 18189 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including calcium channel regulator activity; calcium-dependent protein binding activity; and signaling receptor binding activity. Involved in several processes, including modulation of chemical synaptic transmission; regulation of synapse assembly; and synapse organization. Acts upstream of or within neurotransmitter secretion; positive regulation of synapse assembly; and positive regulation of synapse maturation. Located in several cellular components, including axonal growth cone; neuronal cell body; and nuclear membrane. Part of protein complex involved in cell-cell adhesion and trans-synaptic protein complex. Is active in several cellular components, including GABA-ergic synapse; Schaffer collateral - CA1 synapse; and presynaptic active zone membrane. Is expressed in several structures, including adrenal gland; limb; nervous system; oral epithelium; and sensory organ. Used to study autism spectrum disorder and schizophrenia. Human ortholog(s) of this gene implicated in Pitt-Hopkins-like syndrome 2. Orthologous to human NRXN1 (neurexin 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced Ca(2+)-dependent binding of alpha-latrotoxin to brain membranes. Isolated synaptosomes display only a small reduction in alpha-latrotoxin -triggered glutamate release in the absence of Ca(2+) but show a major decrease in the presence of Ca(2+). [provided by MGI curators] |