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Rabbit Anti-NLGN4X/FITC Conjugated antibody
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. The encoded protein interacts with discs, large (Drosophila) homolog 4 (DLG4). Mutations in this gene have been associated with autism and Asperger syndrome. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008].
Function:
Putative neuronal cell surface protein involved in cell-cell-interactions.
Subunit:
Belongs to the type-B carboxylesterase/lipase family.
Subcellular Location:
Membrane.
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.
DISEASE:
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.
Similarity:
Belongs to the type-B carboxylesterase/lipase family.
Database links:
Entrez Gene: 57502 Human
Omim: 300427 Human
SwissProt: Q8N0W4 Human
Unigene: 21107 Human
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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