|Other Names||Fanconi anemia group A protein, Protein FACA, FANCA, FAA, FACA, FANCH|
|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.|
|Synonyms||FAA, FACA, FANCH|
|Function||DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be involved in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability.|
|Cellular Location||Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmic|
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The Fanconi anemia complementation group (FANC) currentlyincludes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2,FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCMand FANCN (also called PALB2). The previously defined group FANCHis the same as FANCA. Fanconi anemia is a genetically heterogeneousrecessive disorder characterized by cytogenetic instability,hypersensitivity to DNA crosslinking agents, increased chromosomalbreakage, and defective DNA repair. The members of the Fanconianemia complementation group do not share sequence similarity; theyare related by their assembly into a common nuclear proteincomplex. This gene encodes the protein for complementation group A.Alternative splicing results in multiple transcript variantsencoding different isoforms. Mutations in this gene are the mostcommon cause of Fanconi anemia.
Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)Liu, C.Y., et al. Carcinogenesis 31(7):1259-1263(2010)Monsees, G.M., et al. Breast Cancer Res. Treat. (2010) In press :Eriksson, N., et al. PLoS Genet. 6 (6), E1000993 (2010) :Talmud, P.J., et al. Am. J. Hum. Genet. 85(5):628-642(2009)
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