RAD51B
The Rad51B Gene: A Guardian of Genomic Integrity
Description
The rad51b gene, located on chromosome 14q24.3, encodes a protein known as RAD51B. This protein is an essential component of the homologous recombination (HR) pathway, a vital mechanism for repairing damaged DNA and maintaining genomic stability. RAD51B binds to single-stranded DNA and facilitates the search for and pairing with homologous sequences, enabling accurate repair.
Associated Diseases
Mutations in the rad51b gene have been linked to a rare genetic disorder known as Fanconi anemia (FA), an inherited condition characterized by bone marrow failure, developmental abnormalities, and an increased risk of cancer. Defective RAD51B impairs HR and leads to chromosomal instability and cell death.
In addition to FA, variants in the rad51b gene have been associated with increased susceptibility to other types of cancer, including breast, ovarian, and prostate cancer. These variants may affect the efficiency of HR, compromising the ability of cells to repair DNA damage and leading to genomic instability and tumorigenesis.
Did you Know ?
Approximately 2% of FA cases worldwide are caused by mutations in the rad51b gene, making it one of the most common genetic defects associated with the disorder.
