Description
Product Characteristics: Contacting-associated protein 2 (Caspr2) is a member of the neurexin superfamily that mediates nervous system cell-cell interactions. The C-terminal region of Caspr2 participates in the association with Kv1.1, Kv1.2 and their Kv-beta-2 subunit. Expression of Caspr2 is regulated directly by transcription factor FOXP2. Disruption or decreased expression of Caspr2 probably leads to a disturbed distribution of potassium channels in the nervous system. Mutations in the Caspr2 gene have been linked to many diseases such as focal epilepsy, autism spectrum disorder and cortical dysplasia-focal epilepsy syndrome (CDFES).
Target Information: This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons, and mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2 (FOXP2), a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and mental retardation.[provided by RefSeq, Mar 2010]