RAD51 Paralog C

Alternative Names

  • RAD51C
  • RAD51, S. cerevisiae, Homolog of, C

Associated Diseases

Breast Cancer
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OMIM Number

602774

NCBI Gene ID

5889

Uniprot ID

O43502

Length

43,472 bases

No. of Exons

12

No. of isoforms

2

Protein Name

DNA repair protein RAD51 homolog 3

Molecular Mass

42190 Da

Amino Acid Count

376

Genomic Location

chr17:58,692,140-58,735,611

Gene Map Locus
17q22

Description

This gene is a member of the RAD51 family. RAD51 family members are highly similar to bacterial RecA and Saccharomyces cerevisiae Rad51 and are known to be involved in the homologous recombination and repair of DNA. This protein can interact with other RAD51 paralogs and is reported to be important for Holliday junction resolution. Mutations in this gene are associated with Fanconi anemia-like syndrome. This gene is one of four localized to a region of chromosome 17q23 where amplification occurs frequently in breast tumors. Overexpression of the four genes during amplification has been observed and suggests a possible role in tumor progression. Alternative splicing results in multiple transcript variants. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_002876.3:c.376G>A Lebanonchr17:58695161Benign, Likely BenignUncertain SignificanceBreast CancerNG_023199.1:g.7560G>A; NM_002876.3:c.376G>A ; NP_002867.1:p.Ala126Thr61758784132721

Other Reports

United Arab Emirates

In a retrospective study of breast cancer patients in the UAE, Altinoz et al (2020) identified three Emirati patients with pathogenic variants in the RAD51C gene. An additional two Emiratis were found to have variants of uncertain significance in the same gene.

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