产品名称
NLGNX Rabbit Polyclonal Antibody
基因名称
NLGN4X KIAA1260 NLGN4 UNQ365/PRO701
存储缓冲液
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% New type preservative N.
Human Gene Link
https://www.uniprot.org/uniprot/57502
Human Swissprot No.
Q8N0W4
Human Swissprot Link
https://www.uniprot.org/uniprotkb/Q8N0W4/entry
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
宿主
Polyclonal, Rabbit,IgG
背景介绍
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],
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.
细胞定位
Cell membrane; Single-pass type I membrane protein. Cell junction, synapse, postsynaptic density membrane.
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 pancreas and at very low levels in brain.,
纯化
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
