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Fanconi anemia group C protein; protein FACC (FANCC, FAC, FACC)
Function:
- DNA repair protein
- postreplication repair
- cell cycle checkpoint function
- interstrand DNA cross-link repair
- maintenance of normal chromosome stability
- component of multisubunit FA complex
- interacts with ZBTB32
Compartment:
- nucleus, cytoplasm
- major form is nuclear
- minor form is cytoplasmic
Expression: ubiquitous
Pathology:
- defects in FANCC are a cause of Fanconi anemia
Related
FANCC gene mutation
Fanconi anemia
General
nuclear protein
protein subunit
Properties
SIZE: entity length = 558 aa
MW = 63 kD
COMPARTMENT: cytoplasm
cell nucleus
Database Correlations
OMIM correlations
UniProt Q00597
Pfam PF02106
Entrez Gene 2176
Kegg hsa:2176
References
- UniProt :accession Q00597
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/FACC101.html
- Fanconi Anemia mutation Database
http://www.rockefeller.edu/fanconi/mutate/jumpc.html
- GeneReviews
http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/FANCC
- NIEHS-SNPs
http://egp.gs.washington.edu/data/fancc/
Component-of
Fanconi anemia complementation group complex (FA complex)