Species Human Entrez 8506 | Human Mouse Ensembl ENSG00000108797 | |
Aliases CNTNAP1, CASPR, CNTNAP, NRXN4, P190, contactin associated protein 1 External IDs MGI: 1858201 HomoloGene: 2693 GeneCards: CNTNAP1 | ||
Contactin associated protein 1 is a protein that in humans is encoded by the CNTNAP1 gene.
Function
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].
Mutations in CNTNAP1 cause arthrogryposis multiplex congenita .