Fanconi anemia, complementation group C

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Fanconi anemia, complementation group C
Identifiers
Symbols FANCC ; FA3; FAC; FACC; FLJ14675
External IDs Template:OMIM5 Template:MGI HomoloGene: 109
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species Human Mouse
Entrez n/a n/a
Ensembl n/a n/a
UniProt n/a n/a
RefSeq (mRNA) n/a n/a
RefSeq (protein) n/a n/a
Location (UCSC) n/a n/a
PubMed search n/a n/a

Fanconi anemia, complementation group C, also known as FANCC, is a human gene.[1]

The protein encoded by this gene delays the onset of apoptosis and promotes homologous recombination repair of damaged DNA. Mutations in this gene result in Fanconi anemia.[1]

References

  1. ↑ 1.0 1.1 "Entrez Gene: FANCC Fanconi anemia, complementation group C".

Further reading

  • Strathdee CA, Duncan AM, Buchwald M (1993). "Evidence for at least four Fanconi anaemia genes including FACC on chromosome 9". Nat. Genet. 1 (3): 196–8. doi:10.1038/ng0692-196. PMID 1303234.
  • Strathdee CA, Gavish H, Shannon WR, Buchwald M (1992). "Cloning of cDNAs for Fanconi's anaemia by functional complementation". Nature. 356 (6372): 763–7. doi:10.1038/356763a0. PMID 1574115.
  • Strathdee CA, Gavish H, Shannon WR, Buchwald M (1992). "Cloning of cDNAs for Fanconi's anaemia by functional complementation". Nature. 358 (6385): 434. doi:10.1038/358434a0. PMID 1641028.
  • Verlander PC, Kaporis A, Liu Q; et al. (1996). "Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population". Blood. 86 (11): 4034–8. PMID 7492758.
  • Yamashita T, Barber DL, Zhu Y; et al. (1994). "The Fanconi anemia polypeptide FACC is localized to the cytoplasm". Proc. Natl. Acad. Sci. U.S.A. 91 (14): 6712–6. PMID 7517562.
  • Segal GM, Magenis RE, Brown M; et al. (1994). "Repression of Fanconi anemia gene (FACC) expression inhibits growth of hematopoietic progenitor cells". J. Clin. Invest. 94 (2): 846–52. PMID 7518843.
  • Youssoufian H (1994). "Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells". Proc. Natl. Acad. Sci. U.S.A. 91 (17): 7975–9. PMID 8058745.
  • Whitney MA, Jakobs P, Kaback M; et al. (1994). "The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population". Hum. Mutat. 3 (4): 339–41. doi:10.1002/humu.1380030402. PMID 8081385.
  • Murer-Orlando M, Llerena JC, Birjandi F; et al. (1993). "FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia". Lancet. 342 (8872): 686. PMID 8103176.
  • Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. PMID 8125298.
  • Verlander PC, Lin JD, Udono MU; et al. (1994). "Mutation analysis of the Fanconi anemia gene FACC". Am. J. Hum. Genet. 54 (4): 595–601. PMID 8128956.
  • Whitney MA, Saito H, Jakobs PM; et al. (1993). "A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews". Nat. Genet. 4 (2): 202–5. doi:10.1038/ng0693-202. PMID 8348157.
  • Gibson RA, Buchwald M, Roberts RG, Mathew CG (1993). "Characterisation of the exon structure of the Fanconi anaemia group C gene by vectorette PCR". Hum. Mol. Genet. 2 (1): 35–8. PMID 8490620.
  • Gavish H, dos Santos CC, Buchwald M (1993). "A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein". Hum. Mol. Genet. 2 (2): 123–6. PMID 8499901.
  • Youssoufian H, Li Y, Martin ME, Buchwald M (1996). "Induction of Fanconi anemia cellular phenotype in human 293 cells by overexpression of a mutant FAC allele". J. Clin. Invest. 97 (4): 957–62. PMID 8613549.
  • Yamashita T, Wu N, Kupfer G; et al. (1996). "Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity". Blood. 87 (10): 4424–32. PMID 8639804.
  • Lo Ten Foe JR, Rooimans MA, Joenje H, Arwert F (1996). "Novel frameshift mutation (1806insA) in exon 14 of the Fanconi anemia C gene, FAC". Hum. Mutat. 7 (3): 264–5. doi:10.1002/(SICI)1098-1004(1996)7:3&lt;264::AID-HUMU11&gt;3.0.CO;2-0. PMID 8829660.
  • Gibson RA, Morgan NV, Goldstein LH; et al. (1996). "Novel mutations and polymorphisms in the Fanconi anemia group C gene". Hum. Mutat. 8 (2): 140–8. doi:10.1002/(SICI)1098-1004(1996)8:2&lt;140::AID-HUMU6&gt;3.0.CO;2-F. PMID 8844212.
  • Kupfer GM, Yamashita T, Naf D; et al. (1997). "The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2". Blood. 90 (3): 1047–54. PMID 9242535.
  • Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K; et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. PMID 9373149.

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