Hoatlin:FANCN

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) 1 pmid=17200671
 * 2) 2 pmid=17200668
 * 3) 3 pmid=17200672

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