NLGN3 Antibody – Mouse Polyclonal

This gene encodes a member of a family of neuronal cell surface proteins. Members of this family may act as splice site-specific ligands for beta-neurexins and may be involved in the formation and remodeling of central nervous system synapses. Mutations in this gene may be associated with autism and Asperger syndrome. Multiple transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Oct 2009]

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: extracellular space; cell surface; endocytic vesicle; integral to plasma membrane; excitatory synapse; synapse; cell junction

Molecular Function: protein binding; neurexin binding; receptor activity; cell adhesion molecule binding

Biological Process: regulation of synaptic transmission; receptor-mediated endocytosis; rhythmic synaptic transmission; axon extension; metabolic process; neurological control of breathing; social behavior; learning; positive regulation of synaptic transmission, glutamatergic; regulation of inhibitory postsynaptic membrane potential; positive regulation of synaptogenesis; synaptogenesis; adult behavior; synapse organization and biogenesis; visual learning; oligodendrocyte differentiation; neuron adhesion

Disease: Asperger Syndrome, X-linked, Susceptibility To, 1; Autism, Susceptibility To, X-linked 1