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FANCI is a second monoubiquitinated member of the Fanconi anemia pathway.

Activation of the Fanconi anemia (FA) DNA damage-response pathway results in the monoubiquitination of FANCD2, which is regulated by the nuclear FA core ubiquitin ligase complex. A FANCD2 protein sequence-based homology search facilitated the discovery of FANCI, a second monoubiquitinated component of the FA pathway. Biallelic mutations in the gene coding for this protein were found in cells from four FA patients, including an FA-I reference cell line.

Pubmed ID: 17460694 RIS Download

Mesh terms: Amino Acid Sequence | Base Sequence | Blotting, Western | Computational Biology | DNA Repair | Fanconi Anemia | Fanconi Anemia Complementation Group D2 Protein | Fanconi Anemia Complementation Group Proteins | HeLa Cells | Humans | Immunoprecipitation | Microscopy, Fluorescence | Molecular Sequence Data | Mutation | Sequence Analysis, DNA | Ubiquitination

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Associated grants

  • Agency: NIGMS NIH HHS, Id: R01 GM084244
  • Agency: NHLBI NIH HHS, Id: R37HL32987

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