NHP2L1
NHP2L1: A Crucial Protein with Implications for Health and Disease
Description:
NHP2L1 (Non-homologous end-joining factor 2-like 1) is a protein involved in a critical DNA repair pathway known as non-homologous end-joining (NHEJ). NHEJ is crucial for repairing double-stranded DNA breaks, which can occur due to various environmental factors and cellular processes.
Associated Diseases:
Mutations in the NHP2L1 gene have been linked to several diseases, including:
- Nijmegen Breakage Syndrome: A rare genetic disorder characterized by extreme sensitivity to radiation, growth retardation, and an increased risk of developing cancer.
- Lymphoid Malignancies: NHP2L1 mutations have been found in patients with B-cell and T-cell malignancies, such as chronic lymphocytic leukemia and non-Hodgkin's lymphoma.
- Neurological Disorders: NHP2L1 mutations have also been implicated in neurological disorders, such as microcephaly (abnormally small head) and developmental delays.
Did you Know ?
Approximately 1 in 100,000 individuals are affected by Nijmegen Breakage Syndrome, making it a relatively rare disorder.
