Contactin Associated Protein 1 (CNTNAP1) ELISA Kit for Cavy

The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The 1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain, and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin, enabling recruitment and activation of intracellular signaling pathways in neurons. [provided by RefSeq, Jan 2009]

CNTNAP1: Seems to play a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers. Seems to demarcate the paranodal region of the axo-glial junction. In association with contactin may have a role in the signaling between axons and myelinating glial cells. Belongs to the neurexin family.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 17q21

Cellular Component: voltage-gated potassium channel complex; integral to plasma membrane; paranode region of axon; integral to membrane

Molecular Function: protein binding; SH3/SH2 adaptor activity; receptor activity; SH3 domain binding

Biological Process: neuromuscular process controlling posture; axon guidance; positive regulation of signal transduction; action potential propagation; axon cargo transport; cytoskeleton organization and biogenesis; signal transduction; cell adhesion; neuromuscular process controlling balance; neurite morphogenesis; paranodal junction assembly

Disease: Lethal Congenital Contracture Syndrome 7