Short CommunicationThe Human Contactin-Associated Protein-like 2 Gene (CNTNAP2) Spans over 2 Mb of DNA at Chromosome 7q35☆
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Cited by (28)
The association of CNTNAP2 rs7794745 gene polymorphism and autism in Iranian population
2017, Journal of Clinical NeuroscienceCitation Excerpt :The Contactin-associated protein-like 2 gene (CNTNAP2) which has been shown to be involved in ASD is expressed in areas of the brain that are associated with ASD [12,13]. CNTNAP2 is a member of the neurexin superfamily contains 24 exons, spans 2.3 Mb on Chromosome 7q, and is one of the largest mammalian genes [14]. CNTNAP2 is highly expressed the brain and spinal cord during development, encodes contactin associated protein-like 2 (Caspr2) which is a neuronal transmembrane scaffolding protein that clustering K+ channels at the juxtaparanodal region of the nodes of Ranvier in myelinated axons and is believed that it contribute to cellular migration and subsequent laminar organization [15,16].
CNTNAP2 Mutations in Autism
2016, Neuronal and Synaptic Dysfunction in Autism Spectrum Disorder and Intellectual DisabilityTopoisomerases interlink genetic network underlying autism
2015, International Journal of Developmental NeuroscienceCitation Excerpt :One of the candidate genes associated with autism, (Alarcon et al., 2008; Abrahams et al., 2008) which is also regulated by topoisomerase, (Mabb et al., 2014) is CNTNAP2. CNTNAP2 is an extremely long gene, spanning approximately 2,3 Mb (Nakabayashi and Scherer, 2001), coding CASPR2 protein. CASPR2 belongs to the contactin-associated protein family and is highly homologous to neurexins (NRXN), a presynaptic cell-adhesion molecule.
What does CNTNAP2 reveal about autism spectrum disorder?
2012, Trends in Molecular MedicineCitation Excerpt :Most of our current knowledge on the function of the gene is based on postnatal studies of mouse brain. The human CNTNAP2 gene is thought to be the largest gene in the genome, spanning approximately 2.3 Mb at chromosomal region 7q35–q36.1 [49]. The CNTNAP2 protein (CASPR2) was identified in 1999 in rodents as a new member of the neurexin superfamily and specifically as the mammalian homolog of the fruit fly (Drosophila melanogaster) neurexin IV, involved in neuron–glia interactions in myelinated axons (Box 3; [50–57]).
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Sequence data from this article have been deposited with the GenBank Data Library under Accession No. AF319045.
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