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Fanconi Anemia Complementation Group C (FANCC)

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FA3; FAC; FACC

Fanconi Anemia Complementation Group C (FANCC)
CCC J732
HGNC 3584
MGI 95480
PubMed 18990233
RGD 2593
UniProt Q00597
Wiki FANCC
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 C.
The cDNAs encoded alternatively processed transcripts of a new gene, designated FACC, mutated in patients with Fanconi anemia complementation group C. FACC transcripts were detected in a wide variety of tissues and cell lines by use of PCR with reverse-transcribed RNA.

Organism species: Homo sapiens (Human)

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

Organism species: Mus musculus (Mouse)

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

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Fanconi Anemia Complementation Group C (FANCC) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Fanconi Anemia Complementation Group C (FANCC) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Fanconi Anemia Complementation Group C (FANCC) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Fanconi Anemia Complementation Group C (FANCC) CLIA Kit Customized Service Offer
n/a ELISA Kit for Fanconi Anemia Complementation Group C (FANCC) ELISA Kit Customized Service Offer
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  2. ErratumNature 358:434-434(1992) [PubMed] [Europe PMC] [Abstract]
  3. "Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR."Hum. Mol. Genet. 2:35-38(1993) [PubMed] [Europe PMC] [Abstract]
  4. "DNA sequence and analysis of human chromosome 9." Nature 429:369-374(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. "The Fanconi anemia polypeptide FACC is localized to the cytoplasm."Proc. Natl. Acad. Sci. U.S.A. 91:6712-6716(1994) [PubMed] [Europe PMC] [Abstract]
  7. "Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells."Proc. Natl. Acad. Sci. U.S.A. 91:7975-7979(1994) [PubMed] [Europe PMC] [Abstract]
  8. "The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2."Blood 90:1047-1054(1997) [PubMed] [Europe PMC] [Abstract]
  9. "A novel BTB/POZ transcriptional repressor protein interacts with the Fanconi anemia group C protein and PLZF."Blood 94:3737-3747(1999) [PubMed] [Europe PMC] [Abstract]
  10. "The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality."Blood 98:1392-1401(2001) [PubMed] [Europe PMC] [Abstract]
  11. "A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome."Mol. Cell. Biol. 23:3417-3426(2003) [PubMed] [Europe PMC] [Abstract]
  12. "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]
  13. "X-linked inheritance of Fanconi anemia complementation group B."Nat. Genet. 36:1219-1224(2004) [PubMed] [Europe PMC] [Abstract]
  14. "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]
  15. "Regulation of Rev1 by the Fanconi anemia core complex."Nat. Struct. Mol. Biol. 19:164-170(2012) [PubMed] [Europe PMC] [Abstract]
  16. "A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein."Hum. Mol. Genet. 2:123-126(1993) [PubMed] [Europe PMC] [Abstract]
  17. "A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews."Nat. Genet. 4:202-205(1993) [PubMed] [Europe PMC] [Abstract]
  18. "Mutation analysis of the Fanconi anemia gene FACC."Am. J. Hum. Genet. 54:595-601(1994) [PubMed] [Europe PMC] [Abstract]
  19. "Novel mutations and polymorphisms in the Fanconi anemia group C gene." Hum. Mutat. 8:140-148(1996) [PubMed] [Europe PMC] [Abstract]