TK2 : thymidine kinase 2
Description
The TK2 gene provides instructions for making the enzyme thymidine kinase 2, a crucial enzyme involved in the synthesis of deoxythymidine monophosphate (dTMP), a building block of DNA. This process is essential for the replication and repair of DNA in red blood cells, which are responsible for carrying oxygen throughout the body. TK2 deficiency, caused by mutations in the TK2 gene, leads to a disruption in DNA synthesis, resulting in impaired red blood cell function and development.
Associated Diseases
- Diamond-Blackfan Anemia (DBA): A rare, congenital disorder characterized by a deficiency of red blood cells, often associated with physical abnormalities.
- Dyskeratosis Congenita (DC): A genetic disorder affecting the skin, nails, and bone marrow, with features including premature aging, nail dystrophy, and bone marrow failure.
- Congenital Sideroblastic Anemia (CSA): A group of inherited disorders characterized by the accumulation of iron in mitochondria, leading to impaired red blood cell production.
Did you know?
Mutations in the TK2 gene can result in a variety of clinical manifestations, ranging from mild anemia to severe bone marrow failure, highlighting the gene‘s vital role in red blood cell function.
