Hoatlin:FANCN

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Contents

Summary

  • colocalizes with the DNA repair protein BRCA2
  • not in the Fanconi nuclear ‘core complex’
  • monoubiquitination of FANCD2 is unaffected by defects in the gene coding for FANCN
  • new Fanconi anemia complementation group, FA-N
  • sequence alterations in FANCN cause reduced detection of BRCA2 and sensitivity to crosslinking agents, which is typical for Fanconi patients.
  • size of protein-1186 amino acids or 130 kDa
  • number of nucs-3,552
  • antibody against the N terminus and central region (amino acids 601-880)
  • seq online in other species?

Mutations

  • 8 patients known to have FANCN mutations
  • bialleic
  • premature stop codon very close to the C-terminus causing non-functioning protein truncations
  • critical tyrosine residue at C-terminus-Y1183X

Sequences

Homo sapiens (Human) FANCN/PALB2


Publications

  1. Reid S, Schindler D, Hanenberg H, Barker K, Hanks S, Kalb R, Neveling K, Kelly P, Seal S, Freund M, Wurm M, Batish SD, Lach FP, Yetgin S, Neitzel H, Ariffin H, Tischkowitz M, Mathew CG, Auerbach AD, and Rahman N. . pmid:17200671. PubMed HubMed [1]
  2. Rahman N, Seal S, Thompson D, Kelly P, Renwick A, Elliott A, Reid S, Spanova K, Barfoot R, Chagtai T, Jayatilake H, McGuffog L, Hanks S, Evans DG, Eccles D, Breast Cancer Susceptibility Collaboration (UK), Easton DF, and Stratton MR. . pmid:17200668. PubMed HubMed [2]
  3. Xia B, Dorsman JC, Ameziane N, de Vries Y, Rooimans MA, Sheng Q, Pals G, Errami A, Gluckman E, Llera J, Wang W, Livingston DM, Joenje H, and de Winter JP. . pmid:17200672. PubMed HubMed [3]
All Medline abstracts: PubMed HubMed


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