Anti-MPLKIP Antibody Picoband® HRP Conjugated

The protein encoded by this gene localizes to the centrosome during mitosis and to the midbody during cytokinesis. The protein is phosphorylated by cyclin-dependent kinase 1 during mitosis and subsequently interacts with polo-like kinase 1. The protein is thought to function in regulating mitosis and cytokinesis. Mutations in this gene result in nonphotosensitive trichothiodystrophy.

1. Botta, E., Offman, J., Nardo, T., Ricotti, R., Zambruno, G., Sansone, D., Balestri, P., Raams, A., Kleijer, W. J., Jaspers, N. G. J., Sarasin, A., Lehmann, A. R., Stefanini, M. Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationships. Hum. Mutat. 28: 92-96, 2007. 2. Jackson, C. E., Weiss, L., Watson, J. H. L. 'Brittle' hair with short stature, intellectual impairment and decreased fertility: an autosomal recessive syndrome in an Amish kindred. Pediatrics 54: 201-212, 1974. 3. Nakabayashi, K., Amann, D., Ren, Y., Saarialho-Kere, U., Avidan, N., Gentles, S., MacDonald, J. R., Puffenberger, E. G., Christiano, A. M., Martinez-Mir, A., Salas-Alanis, J. C., Rizzo, R., Vamos, E., Raams, A., Les, C., Seboun, E., Jaspers, N. G. J., Beckmann, J. S., Jackson, C. E., Scherer, S. W. Identification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy. Am. J. Hum. Genet. 76: 510-516, 2005.