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
- 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. Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer. Nat Genet. 2007 Feb;39(2):162-4. DOI:10.1038/ng1947 | PubMed ID:17200671 | HubMed [1]
- 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. PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. Nat Genet. 2007 Feb;39(2):165-7. DOI:10.1038/ng1959 | PubMed ID:17200668 | HubMed [2]
- 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. Fanconi anemia is associated with a defect in the BRCA2 partner PALB2. Nat Genet. 2007 Feb;39(2):159-61. DOI:10.1038/ng1942 | PubMed ID:17200672 | HubMed [3]
All Medline abstracts: PubMed | HubMed
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