DAB44

DAB44, also known as DAB44, is a protein that in humans is encoded by the DAB44 gene. This gene is located on chromosome 19q13.2. DAB44 is a member of the DAB family of proteins, which are involved in various cellular processes, including DNA repair, cell cycle regulation, and apoptosis. The DAB44 protein is primarily localized in the nucleus and plays a crucial role in DNA damage response and repair. It interacts with several other proteins, such as ATM, ATR, and MDC1, to form a complex that facilitates the repair of DNA double-strand breaks. Mutations in the DAB44 gene have been associated with several genetic disorders, including Fanconi anemia and ataxia-telangiectasia. These disorders are characterized by progressive neurological symptoms, bone marrow failure, and increased susceptibility to cancer. The exact mechanism by which DAB44 mutations lead to these disorders is still under investigation, but it is believed to be related to the impaired DNA damage response and repair. Research on DAB44 and its role in DNA repair is ongoing, with the aim of developing new therapeutic strategies for the treatment of genetic disorders and cancer.