Jerky Homolog (JRK)

JRK 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.

The predicted 520-amino acid protein shares 76% and 41% sequence identity with jerky and HHMJG , respectively. Northern blot analysis revealed that JH8 is expressed as a 9.5-kb mRNA in all tissues. Additional smaller bands were also detected.