RAD51C
RAD51C is a human gene that encodes a protein involved in DNA repair, specifically homologous recombination. It is a member of the RAD51 protein family, which plays a crucial role in maintaining genomic stability.
Function:
The RAD51C protein forms a complex with other proteins, including BRCA1 and BRCA2, to facilitate the accurate and efficient repair of double-strand DNA breaks. These breaks can occur due to various factors such as exposure to radiation, certain chemicals, or errors during DNA replication. RAD51C helps to ensure that broken DNA strands are repaired using homologous recombination, a process that utilizes an undamaged DNA template to accurately copy the missing sequence. This repair mechanism is essential for preventing mutations and maintaining the integrity of the genome.
Clinical Significance:
Mutations in the RAD51C gene are associated with an increased risk of certain cancers, particularly ovarian cancer. RAD51C is considered a cancer susceptibility gene, meaning that inheriting a mutated copy of the gene increases the likelihood of developing cancer. Individuals with RAD51C mutations may also have a slightly elevated risk of breast cancer. Genetic testing for RAD51C mutations can be used to identify individuals at higher risk for these cancers, allowing for personalized screening and preventative measures. Loss of RAD51C function leads to impaired homologous recombination and genomic instability, which contributes to cancer development.
Structure:
The RAD51C protein is a large protein containing several conserved domains. It interacts with other proteins in the DNA repair pathway via these domains. The exact three-dimensional structure of the RAD51C protein and its complex with other proteins is still being investigated, but studies have revealed important information about its domain architecture and interaction partners.
Interactions:
RAD51C interacts with a number of proteins involved in DNA repair and genome stability, including:
- RAD51
- BRCA1
- BRCA2
- RAD51B
- XRCC3
- PALB2
These interactions are crucial for the proper functioning of the homologous recombination pathway.