X-Ray Repair, Complementing Defective, in Chinese Hamster, 5

Alternative Names

  • XRCC5
  • Ku Antigen, 80-kD Subunit
  • Ku80
  • Ku86
Back to search Result
OMIM Number

194364

Gene Map Locus
2q35

Description

The XRCC5 gene encodes an 80 kDa protein that plays a key role in the nonhomologous end joining (NHEJ) DNA repair pathway.  The NHEJ repair pathway is essential for DNA double-strand break repair and V(D)J recombination, a unique genetic recombination mechanism that occurs only in developing lymphocytes during the early stages of T and B cell maturation.

The Ku80 protein carries out its function by forming a heterodimer with the Ku70 protein encoded by the XRCC6 gene.  This heterodimer, known as the Ku protein or the ATP-dependent DNA helicase II, is a basket-shaped molecule that slides onto the DNA end and translocates inward.  It acts as a regulatory subunit of the DNA-dependent protein kinase complex (DNA-PK) by increasing the affinity of the catalytic subunit (PRKDC) to DNA. 

Molecular Genetics

The XRCC5 gene is located on the long arm of chromosome 2.  It is made up of about 98 kb and has a coding sequence spanning 21 exons.  The protein encoded by the Ku80 gene is approximately 82 kDa in size. It consists of 732 amino acids.

Epidemiology in the Arab World

View Map

Other Reports

Saudi Arabia

Al-Hadyan et al. (2012) investigated the association between the Ku80 variant A2790G and the risk of developing head and neck squamous cell carcinoma.  A total of 156 Saudi head and neck cancer affected individuals as well as 251 healthy Saudi controls provided blood samples for this study.  DNA was extracted from these samples, amplified and sequenced.  It was found that the SNP A2790G had a statistically significant allelic association with head and neck cancer [p=0.04, OR=1.5 (1.01-2.23)].  Cancer cases and controls were found to be in Hardy-Weinberg equilibrium.   

© CAGS 2024. All rights reserved.