Fanconi anemia, complementation group C

From Wikipedia, the free encyclopedia

Identifiers

FANCC; FA3; FAC; FACC; FLJ14675

External IDs

Gene ontology
Molecular Function:	• protein binding
Cellular Component:	• nucleus • cytoplasm • cytosol
Biological Process:	• DNA repair • nucleotide-excision repair • protein complex assembly • germ cell development

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_000136 (mRNA)
NP_000127 (protein)

NM_001042673 (mRNA)
NP_001036138 (protein)

Location

Chr 9: 96.9 - 97.12 Mb

Chr 13: 63.31 - 63.44 Mb

Pubmed search

[1]

[2]

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]

[edit] References

^ ^a ^b Entrez Gene: FANCC Fanconi anemia, complementation group C.

[edit] 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<264::AID-HUMU11>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<140::AID-HUMU6>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.