RAD51C (alias FANCO)
In
databases :
Entrez (http://www.ncbi.nlm.nih.gov/sites/gquery):
5889 or RAD51C
Ensembl (http://www.ensembl.org/index.html):
ENSG00000108384
UniProt (http://www.uniprot.org/): O43502
OMIM (http://www.ncbi.nlm.nih.gov/omim):
602774
GeneCards (http://www.genecards.org/): RAD51C
HGNC (http://www.genenames.org/): 9820 or RAD51C
Gene locus:
17q25.1
Protein name:
RAD51 homolog C (S. cerevisiae)
Protein Size:
376 amino acids; about 42 kDa
Function:
The product of RAD51C gene is essential
for the homologous recombination (HR) pathway of DNA repair. It is involved in
the homologous recombination repair (HRR) pathway of double-stranded DNA breaks
arising during DNA replication or induced by
DNA-damaging agents.
Cancer-related alterations:
Defects in RAD51C are the cause of
breast-ovarian cancer familial type 3 (BROVCA3) [for BROVCA1, see BRCA1, for
BROVCA2, see BRCA2]. It is a condition associated with familial predisposition
to cancer of the breast and ovaries. Characteristic features in affected
families are an early age of onset of breast cancer (often before age 50),
increased chance of bilateral cancers (cancer that develop in both breasts, or
both ovaries, independently), frequent occurrence of breast cancer among men,
increased incidence of tumors of other specific organs, such as the prostate.
Defects in RAD51C are the cause of Fanconi
anemia complementation group O (FANCO). See Fanconi Anemia genes.
References (open access):
RAD51C: a novel cancer susceptibility gene
is linked to Fanconi anemia and breast cancer. Somyajit K, Subramanya S,
Nagaraju G. Carcinogenesis. 2010 Dec;31(12):2031-8.
RAD51C germline mutations in breast and
ovarian cancer patients. Akbari MR, Tonin P, Foulkes WD, Ghadirian P,
Tischkowitz M, Narod SA. Breast Cancer Res. 2010;12(4):404.
Cellular redistribution of Rad51 in
response to DNA damage: novel role for Rad51C. Gildemeister OS, Sage JM, Knight KL. J
Biol Chem. 2009 Nov 13;284(46):31945-52.
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