基因名称(Gene Name)
NLGN3 KIAA1480 NL3
蛋白名称
Neuroligin-3 (Gliotactin homolog)
免疫原
Synthesized peptide derived from human protein . at AA range: 610-690
特异性
NLGN3 Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
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],
功能
disease: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.,disease:Defects in NLGN3 may be the cause of susceptibility to X-linked autism 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.,function:Neuronal cell surface protein thought to be involved in cell-cell-interactions by forming intercellular junctions through binding to beta-neurexins. May play a role in formation or maintenance of synaptic junctions. May also play a role in glia-glia or glia-neuron interactions in the developing peripheral nervous system.,sequence cauti
