Anti-KIF7 Antibody Picoband® Fluoro488 Conjugated

This gene encodes a cilia-associated protein belonging to the kinesin family. This protein plays a role in the sonic hedgehog (SHH) signaling pathway through the regulation of GLI transcription factors. It functions as a negative regulator of the SHH pathway by preventing inappropriate activation of GLI2 in the absence of ligand, and as a positive regulator by preventing the processing of GLI3 into its repressor form. Mutations in this gene have been associated with various ciliopathies.

1. Al-Gazali, L. I., Bakalinova, D. Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. Clin. Dysmorph. 7: 177-184, 1998. 2. Ali, B. R., Silhavy, J. L., Akawi, N. A., Gleeson, J. G., Al-Gazali, L. A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance. Orphanet J. Rare Dis. 7: 27, 2012. Note: Electronic Article. 3. Dafinger, C., Liebau, M. C., Elsayed, S. M., Hellenbroich, Y., Boltshauser, E., Korenke, G. C., Fabretti, F., Janecke, A. R., Ebermann, I., Nurnberg, G., Nurnberg, P., Zentgraf, H., Koerber, F., Addicks, K., Elsobky, E., Benzing, T., Schermer, B., Bolz, H. J. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J. Clin. Invest. 121: 2662-2667, 2011.