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FANCA Polyclonal Antibody, 100μg, (ATB-T1674)
Background: The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]Product datasheet: Overview Product Description FANCA Polyclonal Antibody, 100μg, (ATB-T1674) Image Species Reactivities Human Immunogen Synthesized peptide derived from human FANCA around the non-phosphorylation site of S1149. Properties Form Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. Storage Instructions-20°C/1 year References: Unusual splice site mutations disrupt FANCA exon 8 definition. Mattioli C, et al. Biochim Biophys Acta, 2014 Jul. PMID 24704046 Fanconi anemia founder mutation in Macedonian patients. Madjunkova S, et al. Acta Haematol, 2014. PMID 24356203 Polymorphisms within the FANCA gene associate with premature ovarian failure in Korean women. Pyun JA, et al. Menopause, 2014 May. PMID 24045675 Investigation of FANCA mutations in Greek patients. Selenti N, et al. Anticancer Res, 2013 Aug. PMID 23898106 Polymorphic variations in the FANCA gene in high-risk non-BRCA1/2 breast cancer individuals from the French Canadian population. Litim N, et al. Mol Oncol, 2013 Feb. PMID 23021409
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