CNTNAP-2(STEPHANIE
CNTNAP-2
CNTNAP-2 is a gene that codes for contactin associated protein-like 2 (CASPR2). It is located at 7q35 and a member of the neurexin superfamily which functions as cell adhesion molecules and receptors. CNTCAP2 protein is localized at the juxtaparanodes of myelinated axons and may be involved in axon differentiation.1 In situ hybridizations in separate human fetal brains determined that a CNTNAP2 transcript was strikingly restricted to developing frontotemporal-subcortical circuits known to be critical for human executive function. More specifically, this circuitry is thought to subserve joint attention, an essential precursor to verbal communication that is disrupted in ASD.2 Other experiments revealed that CNTNAP2 was highly restricted to frontal and anterior temporal lobes, striatum, and dorsal thalamus. This cortico-striatothalamic circuitry is known to modulate human cognitive function and complex human behaviors including speech and language, reward, frontal executive function, as well as joint attention, a core deficit in ASD.2
References
1. Poliak S.. et. al. Juxtaparanodal clustering of Shaker-like K+ channels in myelinated axons depends on Caspr2 and TAG-1.J Cell Biol. 2003 Sep 15;162(6):1149-60. PMID 12963709
2. Alarcón M. et. al. Linkage, Association, and Gene-Expression Analyses Identify CNTNAP2 as an Autism-Susceptibility Gene.Am J Hum Genet. 2008 January 10; 82(1): 150–159.
