|Other Names||Beta-parvin, Affixin, PARVB|
|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||Adapter protein that plays a role in integrin signaling via ILK and in activation of the GTPases CDC42 and RAC1 by guanine exchange factors, such as ARHGEF6. Is involved in the reorganization of the actin cytoskeleton and formation of lamellipodia. Plays a role in cell adhesion, cell spreading, establishment or maintenance of cell polarity, and cell migration.|
|Cellular Location||Cell junction, focal adhesion. Cell membrane; Peripheral membrane protein; Cytoplasmic side Cytoplasm, cytoskeleton. Cell projection, lamellipodium Cytoplasm, myofibril, sarcomere. Cytoplasm, myofibril, sarcomere, Z line. Note=Constituent of focal adhesions. Detected at the tips of the leading edge of cells. Colocalizes with F-actin at the tips of lamellipodia|
|Tissue Location||Expressed predominantly in heart and skeletal muscle.|
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Mutations in this gene are associated with Nijmegenbreakage syndrome, an autosomal recessive chromosomal instabilitysyndrome characterized by microcephaly, growth retardation,immunodeficiency, and cancer predisposition. The encoded protein isa member of the MRE11/RAD50 double-strand break repair complexwhich consists of 5 proteins. This gene product is thought to beinvolved in DNA double-strand break repair and DNA damage-inducedcheckpoint activation.
Liu, Y., et al. Carcinogenesis 31(10):1762-1769(2010)Kavitha, C.V., et al. Biochem. Biophys. Res. Commun. 399(4):575-580(2010)Ho-Pun-Cheung, A., et al. Pharmacogenomics J. (2010) In press :Jelonek, K., et al. J. Appl. Genet. 51(3):343-352(2010)Jugessur, A., et al. PLoS ONE 5 (7), E11493 (2010) :
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