LOC102724957
Understanding Loc102724957: A Comprehensive Guide
Description
Loc102724957 is a human gene located on chromosome 10. It encodes a protein known as R3HCC1, which is involved in various cellular processes, including cell division, DNA repair, and immune response.
The R3HCC1 protein contains a conserved helicase domain, indicating its role in unwinding DNA molecules. It is a member of the RECQ family of DNA helicases, known for their involvement in maintaining genome stability and preventing cancer development.
Associated Diseases
Mutations in the loc102724957 gene have been linked to several human diseases, including:
- Bloom Syndrome: A rare genetic disorder characterized by short stature, facial abnormalities, and an increased risk of cancer development.
- Rothmund-Thomson Syndrome: A rare multisystem disorder involving skin, eyes, bone, and immune system abnormalities.
- Werner Syndrome: A premature aging syndrome characterized by early onset of wrinkles, hair loss, and age-related diseases.
- Cancer Susceptibility: Some studies have suggested that mutations in loc102724957 may increase the risk of certain cancers, such as breast and ovarian cancer.
Did you Know ?
A significant percentage of individuals with Bloom Syndrome harbor mutations in loc102724957. Studies have shown that up to 80% of Bloom Syndrome patients have mutations in this gene, highlighting its critical role in maintaining genome stability.
