NLGN3: Cell surface protein involved in cell-cell-interactions via its interactions with neurexin family members. Plays a role in synapse function and synaptic signal transmission, and may mediate its effects by clustering other synaptic proteins. May promote the initial formation of synapses, but is not essential for this. May also play a role in glia-glia or glia-neuron interactions in the developing peripheral nervous system. Defects in NLGN3 may be the cause of susceptibility to autism X-linked type 1 (AUTSX1). AUTSX1 is a pervasive developmental disorder (PDD), prototypically characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Defects in NLGN3 may be the cause of susceptibility to X- linked Asperger syndrome 1 (ASPGX1). ASPGX1 is considered to be a form of childhood autism. Belongs to the type-B carboxylesterase/lipase family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: Motility/polarity/chemotaxis; Membrane protein, integral; Cell adhesion
Chromosomal Location of Human Ortholog: Xq13.1
Cellular Component: cell junction; cell soma; cell surface; dendrite; endocytic vesicle; excitatory synapse; extracellular space; integral to plasma membrane; synapse
Molecular Function: cell adhesion molecule binding; neurexin binding; protein binding; receptor activity
Biological Process: adult behavior; axon extension; learning; neurological control of breathing; neuron adhesion; oligodendrocyte differentiation; positive regulation of synaptic transmission, glutamatergic; positive regulation of synaptogenesis; receptor-mediated endocytosis; regulation of excitatory postsynaptic membrane potential; regulation of inhibitory postsynaptic membrane potential; regulation of synaptic transmission; rhythmic synaptic transmission; social behavior; synapse organization and biogenesis; synaptogenesis; visual learning
Disease: Asperger Syndrome, X-linked, Susceptibility To, 1; Autism, Susceptibility To, X-linked 1
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