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Fanconi Anemia Complementation Group A (FANCA)

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FA; FA-H; FA1; FAA; FACA; FAH; FANCH

Fanconi Anemia Complementation Group A (FANCA)
CCC K197
HGNC 3582
MGI 1341823
PubMed 19109555
RGD 1311380
UniProt O15360
Wiki FANCA
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. Mutations in this gene are the most common cause of Fanconi anemia.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Fanconi Anemia Complementation Group A (FANCA) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Fanconi Anemia Complementation Group A (FANCA) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Fanconi Anemia Complementation Group A (FANCA) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Fanconi Anemia Complementation Group A (FANCA) CLIA Kit Customized Service Offer
n/a ELISA Kit for Fanconi Anemia Complementation Group A (FANCA) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Fanconi Anemia Complementation Group A (FANCA) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Fanconi Anemia Complementation Group A (FANCA) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Fanconi Anemia Complementation Group A (FANCA) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Fanconi Anemia Complementation Group A (FANCA) CLIA Kit Customized Service Offer
n/a ELISA Kit for Fanconi Anemia Complementation Group A (FANCA) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Fanconi Anemia Complementation Group A (FANCA) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Fanconi Anemia Complementation Group A (FANCA) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Fanconi Anemia Complementation Group A (FANCA) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Fanconi Anemia Complementation Group A (FANCA) CLIA Kit Customized Service Offer
n/a ELISA Kit for Fanconi Anemia Complementation Group A (FANCA) ELISA Kit Customized Service Offer
  1. "Expression cloning of a cDNA for the major Fanconi anaemia gene, FAA."Nat. Genet. 14:320-323(1996) [PubMed] [Europe PMC] [Abstract]
  2. "The genomic organization of the Fanconi anemia group A (FAA) gene."Genomics 41:309-314(1997) [PubMed] [Europe PMC] [Abstract]
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  4. "The sequence and analysis of duplication-rich human chromosome 16." Nature 432:988-994(2004) [PubMed] [Europe PMC] [Abstract]
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  6. "Fine exon-intron structure of the Fanconi anemia group A (FAA) gene and characterization of two genomic deletions."Genomics 51:463-467(1998) [PubMed] [Europe PMC] [Abstract]
  7. "Identification of Alu-mediated deletions in the Fanconi anemia gene FAA."Hum. Mutat. 12:145-152(1998) [PubMed] [Europe PMC] [Abstract]
  8. "Functional activity of the Fanconi anemia protein FAA requires FAC binding and nuclear localization."Mol. Cell. Biol. 18:5952-5960(1998) [PubMed] [Europe PMC] [Abstract]
  9. "A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome."Mol. Cell. Biol. 23:3417-3426(2003) [PubMed] [Europe PMC] [Abstract]
  10. "The Fanconi anemia pathway requires FAA phosphorylation and FAA/FAC nuclear accumulation."Proc. Natl. Acad. Sci. U.S.A. 95:13085-13090(1998) [PubMed] [Europe PMC] [Abstract]
  11. "The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR)."J. Biol. Chem. 279:43910-43919(2004) [PubMed] [Europe PMC] [Abstract]
  12. "X-linked inheritance of Fanconi anemia complementation group B."Nat. Genet. 36:1219-1224(2004) [PubMed] [Europe PMC] [Abstract]
  13. "A human ortholog of archaeal DNA repair protein Hef is defective in Fanconi anemia complementation group M."Nat. Genet. 37:958-963(2005) [PubMed] [Europe PMC] [Abstract]
  14. "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage."Science 316:1160-1166(2007) [PubMed] [Europe PMC] [Abstract]
  15. "HES1 is a novel interactor of the Fanconi anemia core complex."Blood 112:2062-2070(2008) [PubMed] [Europe PMC] [Abstract]
  16. "Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle."Mol. Cell 31:438-448(2008) [PubMed] [Europe PMC] [Abstract]
  17. "FAAP20: a novel ubiquitin-binding FA nuclear core-complex protein required for functional integrity of the FA-BRCA DNA repair pathway."Blood 119:3285-3294(2012) [PubMed] [Europe PMC] [Abstract]
  18. "A ubiquitin-binding protein, FAAP20, links RNF8-mediated ubiquitination to the Fanconi anemia DNA repair network."Mol. Cell 47:61-75(2012) [PubMed] [Europe PMC] [Abstract]
  19. "Regulation of Rev1 by the Fanconi anemia core complex."Nat. Struct. Mol. Biol. 19:164-170(2012) [PubMed] [Europe PMC] [Abstract]
  20. "Mutations of the Fanconi anemia group A gene (FAA) in Italian patients."Am. J. Hum. Genet. 61:1246-1253(1997) [PubMed] [Europe PMC] [Abstract]
  21. "Sequence variation in the Fanconi anemia gene FAA."Proc. Natl. Acad. Sci. U.S.A. 94:13051-13056(1997) [PubMed] [Europe PMC] [Abstract]
  22. "High frequency of large intragenic deletions in the Fanconi anemia group A gene."Am. J. Hum. Genet. 65:1330-1341(1999) [PubMed] [Europe PMC] [Abstract]
  23. "Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene." Eur. J. Hum. Genet. 7:52-59(1999) [PubMed] [Europe PMC] [Abstract]
  24. "A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation."Exp. Hematol. 27:587-593(1999) [PubMed] [Europe PMC] [Abstract]
  25. "Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients."J. Hum. Genet. 44:48-51(1999) [PubMed] [Europe PMC] [Abstract]
  26. "Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients."Br. J. Haematol. 111:338-343(2000) [PubMed] [Europe PMC] [Abstract]
  27. "Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia."J. Hum. Genet. 45:159-166(2000) [PubMed] [Europe PMC] [Abstract]
  28. "Genetic subtyping of Fanconi anemia by comprehensive mutation screening."Hum. Mutat. 29:159-166(2008) [PubMed] [Europe PMC] [Abstract]
  29. "DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome." Nature 456:66-72(2008) [PubMed] [Europe PMC] [Abstract]