|Other Names||E3 ubiquitin-protein ligase FANCL, 632-, Fanconi anemia group L protein, Fanconi anemia-associated polypeptide of 43 kDa, FAAP43, FANCL, PHF9|
|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||Ubiquitin ligase protein that mediates monoubiquitination of FANCD2, a key step in the DNA damage pathway. Also mediates monoubiquitination of FANCI. May stimulate the ubiquitin release from UBE2W. May be required for proper primordial germ cell proliferation in the embryonic stage, whereas it is probably not needed for spermatogonial proliferation after birth.|
|Cellular Location||Cytoplasm. Nucleus.|
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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 L.Alternative splicing results in two transcript variants encodingdifferent isoforms.
Zhang, J., et al. J. Clin. Invest. 120(5):1524-1534(2010)Garcia, M.J., et al. Carcinogenesis 30(11):1898-1902(2009)McWilliams, R.R., et al. Cancer Epidemiol. Biomarkers Prev. 18(9):2549-2552(2009)Longerich, S., et al. J. Biol. Chem. 284(35):23182-23186(2009)Hess, C.J., et al. Cell. Oncol. 30(4):299-306(2008)
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