This gene encodes a transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in this gene are associated with dyslexia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
KIAA0319; dyslexia-associated protein KIAA0319; dyslexia susceptibility 2; DYX2; DYLX2; MGC176717
Poon, MW; Tsang, WH; et al. Distribution of Kiaa0319-like immunoreactivity in the adult mouse brain - a novel protein encoded by the putative dyslexia susceptibility gene KIAA0319-like. HISTOLOGY AND HISTOPATHOLOGY 26:953-963(2011).
Levecque, C; Velayos-Baeza, A; et al. The dyslexia-associated protein KIAA0319 interacts with adaptor protein 2 and follows the classical clathrin-mediated endocytosis pathway. AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY 297:C160-C168(2009).