|Other Names||Microcephalin, MCPH1|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex.|
|Cellular Location||Cytoplasm, cytoskeleton, microtubule organizing center, centrosome|
|Tissue Location||Expressed in fetal brain, liver and kidney.|
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This gene encodes a DNA damage response protein. Theencoded protein may play a role in G2/M checkpoint arrest viamaintenance of inhibitory phosphorylation of cyclin-dependentkinase 1. Mutations in this gene have been associated with primaryautosomal recessive microcephaly 1 and premature chromosomecondensation syndrome. Alternatively spliced transcript variantshave been described.
Wang, Y., et al. J. Hum. Genet. 55(8):490-494(2010)Ruano, G., et al. Pharmacogenomics 11(7):959-971(2010)Rose, J.E., et al. Mol. Med. 16 (7-8), 247-253 (2010) :Olson, J.E., et al. Breast Cancer Res. Treat. (2010) In press :Wang, Y.Q., et al. Hum. Mol. Genet. 13(11):1131-1137(2004)
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