Aliases for KIAA0319 Gene
External Ids for KIAA0319 Gene
Previous GeneCards Identifiers for KIAA0319 Gene
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. [provided by RefSeq, Nov 2011]
GeneCards Summary for KIAA0319 Gene
KIAA0319 (KIAA0319) is a Protein Coding gene. Diseases associated with KIAA0319 include Dyslexia and Reading Disorder. Among its related pathways are Clathrin-mediated endocytosis and Vesicle-mediated transport. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is KIAA0319L.
UniProtKB/Swiss-Prot for KIAA0319 Gene
Involved in neuronal migration during development of the cerebral neocortex. May function in a cell autonomous and a non-cell autonomous manner and play a role in appropriate adhesion between migrating neurons and radial glial fibers. May also regulate growth and differentiation of dendrites.