免疫原
Synthesized peptide derived from human NLGNX AA range: 601-651
特异性
This antibody detects endogenous levels of NLGNX at Human
来源
Polyclonal, Rabbit,IgG
组成(Formulation)
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺(Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
背景(Background)
This gene encodes a member of the type-B carboxylesterase/lipase protein family. The encoded protein belongs to 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. The encoded protein interacts with discs large homolog 4 (DLG4). Mutations in this gene have been associated with autism and Asperger syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013],
功能
disease:Defects in NLGN4X may be the cause of susceptibility to X-linked Asperger syndrome 2 (ASPGX2) [MIM:300497]. ASPGX2 is considered to be a form of childhood autism.,disease:Defects in NLGN4X may be the cause of susceptibility to X-linked autism 2 (AUTSX2) [MIM:300495]. AUTSX2 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:Putative neuronal cell surface protein involved in cell-cell-interactions.,similarity:Belongs to the type-B carboxylesterase/lipase family.,subunit:Interacts through its C-terminus with DLG4/PSD-95 third PDZ domain.,tissue specificity:Expressed at highest levels in heart. Expressed at lower levels in liver, skeletal muscle and pancre
基因名称(Gene Name)
NLGN4X KIAA1260 NLGN4 UNQ365/PRO701
Fields
>>Cell adhesion molecules
细胞定位
Cell membrane; Single-pass type I membrane protein. Cell junction, synapse, postsynaptic density membrane.
组织表达
Expressed at highest levels in heart. Expressed at lower levels in liver, skeletal muscle and pancreas and at very low levels in brain.