JRK Protéines

This gene is the human homolog of the mouse jerky gene. The encoded protein has similarity to several nuclear regulatory proteins, including centromere protein B, suggesting that it might function as a DNA-binding protein. Insertional inactivation of this gene in transgenic mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene, making this gene a strong candidate for CAE. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008].