Anti-JRK Antibody Picoband® Fluoro594 Conjugated

This gene encodes a conserved protein that is similar to DNA-binding proteins, such as major centromere autoantigen B (CENPB) . Inactivation of the related gene in mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene. Alternative splicing results in multiple transcript variants.

Required for DNA double-strand breaks (DSBs) formation in unsynapsed regions during meiotic recombination. Probably acts by forming a complex with MEI4 and REC114, which activates DSBs formation in unsynapsed regions, an essential step to ensure completion of synapsis. Not required for HORMAD1 functions in pairing-independent synaptonemal complex formation, ATR recruitment to unsynapsed axes, meiotic silencing of unsynapsed chromatin (MSUC) or meiotic surveillance.

1. Donovan, G. P., Harden, C., Gal, J., Ho, L., Sibille, E., Trifiletti, R., Gudas, L. J., Toth, M. Sensitivity to jerky gene dosage underlies epileptic seizures in mice. J. Neurosci. 17: 4562-4569, 1997. 2. Moore, T., Hecquet, S., McLellann, A., Ville, D., Grid, D., Picard, F., Moulard, B., Asherson, P., Makoff, A. J., McCormick, D., Nashef, L., Froguel, P., Arzimanoglou, A., LeGuern, E., Bailleul, B. Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME. Epilepsy Res. 46: 157-167, 2001. 3. Morita, R., Miyazaki, E., Fong, C. G., Chen, X.-N., Korenberg, J. R., Delgado-Escueta, A. V., Yamakawa, K. JH8, a gene highly homologous to the mouse jerky gene, maps to the region for childhood absence epilepsy on 8q24. Biochem. Biophys. Res. Commun. 248: 307-314, 1998. Note: Erratum: Biochem. Biophys. Res. Commun. 250: 536 only, 1998.