background:
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].
Function:
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.
Subunit:
Interacts with NRXN1, NRXN2 and NRXN3. Interacts (via its SLCterminus) with DLG4/PSD-95 (via PDZ domain 3). Homodimer, and heterodimer with NLGN1 and NLGN2.
Subcellular Location:
Cell membrane; Single-pass type I membrane protein. Cell junction, synapse. Note=Detected at both glutamatergic and GABAergic synapses
Tissue Specificity:
Expressed in the blood vessel walls (at protein level). Detected in throughout the brain and in spinal cord. Detected in brain, and at lower levels in pancreas islet beta cells.
DISEASE:
Defects in NLGN3 may be the cause of susceptibility to autism X-linked type 1 (AUTSX1) [MIM:300425]. 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) [MIM:300494]. ASPGX1 is considered to be a form of childhood autism.
Similarity:
Belongs to the type-B carboxylesterase/lipase family.
Database links:
Entrez Gene: 54413 Human
Entrez Gene: 245537 Mouse
Entrez Gene: 171297 Rat
Omim: 300336 Human
SwissProt: Q9NZ94 Human
SwissProt: Q8BYM5 Mouse
SwissProt: Q62889 Rat
Unigene: 438877 Human
Unigene: 121508 Mouse
Unigene: 226139 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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