Neuroligin-4, X-Linked (NLGN4X) ELISA Kit for Human

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]

NLGN4X: Putative neuronal cell surface protein involved in cell- cell-interactions. Defects in NLGN4X may be the cause of susceptibility to autism X-linked type 2 (AUTSX2). 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. Defects in NLGN4X may be the cause of susceptibility to X-linked Asperger syndrome 2 (ASPGX2). ASPGX2 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: Membrane protein, integral

Chromosomal Location of Human Ortholog: Xp22.33

Cellular Component: cell junction; cell surface; dendrite; excitatory synapse; extracellular space; integral to membrane; integral to plasma membrane; plasma membrane; postsynaptic density; postsynaptic membrane; synapse

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

Biological Process: adult behavior; cerebellum development; intercellular junction assembly and maintenance; learning; neuron adhesion; neuron differentiation; organ growth; social behavior; synapse organization and biogenesis; synaptic vesicle endocytosis

Disease: Asperger Syndrome, X-linked, Susceptibility To, 2; Autism, Susceptibility To, X-linked 2