Anti-BRIT1/MCPH1 Antibody Picoband® Cy3 Conjugated

This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described.

1. Alderton, G. K., Galbiati, L., Griffith, E., Surinya, K. H., Neitzel, H., Jackson, A. P., Jeggo, P. A., O'Driscoll, M. Regulation of mitotic entry by microcephalin and its overlap with ATR signalling. Nature Cell Biol. 8: 725-733, 2006. 2. Currat, M., Excoffier, L., Maddison, W., Otto, S. P., Ray, N., Whitlock, M. C., Yeaman, S. Comment on 'Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens' and 'microcephalin, a gene regulating brain size, continues to evolve adaptively in humans.' (Abstract) Science 313: 172 only, 2006. 3. Darvish, H., Esmaeeli-Nieh, S., Monajemi, G. B., Mohseni, M., Ghasemi-Firouzabadi, S., Abedini, S. S., Bahman, I., Jamali, P., Azimi, S., Mojahedi, F., Dehghan, A., Shafeghati, Y., and 14 others. A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. J. Med. Genet. 47: 823-828, 2010. Note: Erratum: J. Med. Genet. 51: 70 only, 2014.