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Fanconi anemia group G protein; protein FACG; DNA repair protein XRCC9 (FANCG, XRCC9)
Function:
- DNA repair protein
- postreplication repair
- cell cycle checkpoint function
- interstrand DNA cross-link repair
- maintenance of normal chromosome stability
- possible tumor suppressor
- component of FA complex
Structure: contains 4 TPR repeats
Compartment:
- nucleus, cytoplasm
- the major form is nuclear
- the minor form is cytoplasmic
Expression:
- highly expressed in testis & thymus
- found in lymphoblasts
Pathology:
- defects in FANCG are a cause of Fanconi anemia (FA)
- the FA complex of which FANCG is a subunit is not found or is non functional in patients with Fanconi anemia
General
nuclear protein
Properties
SIZE: entity length = 622 aa
MW = 69 kD
COMPARTMENT: cytoplasm
cell nucleus
MOTIF: tetratricopeptide repeat {246-279}
tetratricopeptide repeat {344-377}
tetratricopeptide repeat {453-486}
tetratricopeptide repeat {514-547}
Database Correlations
OMIM correlations
MORBIDMAP 602956
UniProt O15287
Entrez Gene 2189
Kegg hsa:2189
References
- UniProt :accession O15287
- Fanconi Anemia mutation Database
http://www.rockefeller.edu/fanconi/mutate/jumpg.html
- Atlas of Genetics & Cytogenetics in Oncology & Haematology
http://atlasgeneticsoncology.org/genes/FANCGID295.html
- GeneReviews
https://www.genecards.org/cgi-bin/carddisp.pl?gene=FANCG
- NIEHS-SNPs
http://egp.gs.washington.edu/data/fancg/
Component-of
Fanconi anemia complementation group complex (FA complex)