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Fanconi anemia group F protein; protein FACF (FANCF)

Function: - DNA repair protein - postreplication repair - cell cycle checkpoint function - interstrand DNA cross-link repair - maintenance of normal chromosome stability - component of FA complex Compartment: nucleus Pathology: - defects in FANCF are a cause of Fanconi anemia

Related

Fanconi anemia

General

nuclear protein protein subunit

Properties

SIZE: entity length = 374 aa MW = 42 kD COMPARTMENT: cell nucleus

Database Correlations

OMIM correlations UniProt Q9NPI8 Entrez Gene 2188 Kegg hsa:2188

References

  1. UniProt :accession Q9NPI8
  2. Atlas of Genetics & Cytogenetics in Oncology & Haematology http://atlasgeneticsoncology.org/genes/FANCFID294.html
  3. Fanconi Anemia mutation Database http://www.rockefeller.edu/fanconi/mutate/jumpf.html
  4. GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/FANCF
  5. NIEHS-SNPs http://egp.gs.washington.edu/data/fancf/

Component-of

Fanconi anemia complementation group complex (FA complex)