TPPP2
TPP2 Gene: An Enigmatic Guardian of Cellular Function
Description
The TP53-induced nuclear protein 2 (TPP2) gene, located on chromosome 17, encodes a protein essential for cellular homeostasis. This protein plays a crucial role in various cellular processes, including DNA repair, cell cycle progression, and apoptosis (programmed cell death).
Associated Diseases
Disruptions in the TPP2 gene have been linked to several human diseases, including:
- Li-Fraumeni syndrome: A rare inherited cancer predisposition syndrome characterized by an increased risk of developing various types of cancer, including breast cancer, leukemia, and sarcomas.
- Myelodysplastic syndromes: A group of hematological disorders involving abnormal production of blood cells, often leading to anemia and other complications.
- Acute myeloid leukemia: A type of cancer that originates in the bone marrow, characterized by uncontrolled proliferation of immature white blood cells.
Did you Know ?
In individuals with Li-Fraumeni syndrome, mutations in the TPP2 gene are estimated to occur in approximately 20-30% of cases. This highlights the significant role of TPP2 in maintaining genome stability and preventing cancer development.
