RUNX1

RUNX1 is a gene that provides instructions for making a protein that helps regulate the development of blood cells. This protein is a type of transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of certain genes. Researchers believe the RUNX1 protein acts as a "master switch" that controls several genes involved in the development of blood cells.

The RUNX1 gene is located on the long (q) arm of chromosome 21 at position 22.3. More precisely, the RUNX1 gene is located from base pair 36,145,758 to base pair 36,186,909 on chromosome 21.

Mutations in the RUNX1 gene can lead to a variety of health conditions. For example, changes in this gene are associated with a higher risk of developing certain types of leukemia, including acute myeloid leukemia (AML) and acute lymphoblastic leukemia (ALL). Some people with RUNX1 gene mutations also have a condition called familial platelet disorder with associated myeloid malignancy (FPD/AML), which is characterized by problems with blood clotting and an increased risk of developing AML.

Structure

The RUNX1 gene contains 12 exons and spans approximately 260 kilobases on the q arm of chromosome 21. The gene encodes a 453 amino acid protein with a molecular weight of approximately 50 kilodaltons.

Function

The RUNX1 protein is a transcription factor that plays a critical role in the development of blood cells. It binds to specific regions of DNA and helps control the activity of certain genes. This protein is particularly important in the development of hematopoietic stem cells, which are the cells that give rise to all other blood cells.

Clinical significance

Mutations in the RUNX1 gene are associated with an increased risk of developing certain types of leukemia, including AML and ALL. These mutations can also cause FPD/AML, a condition characterized by problems with blood clotting and an increased risk of developing AML.

See also

• Transcription factor
• Leukemia
• Chromosome 21
• Acute myeloid leukemia
• Acute lymphoblastic leukemia
• Familial platelet disorder with associated myeloid malignancy