RACGAP1 gene
The RACGAP1 gene provides instructions for a protein that regulates cell division and is essential for the proper development of red blood cells.
Normal Function
The RACGAP1 gene provides instructions for making the Rac GTPase-activating protein 1. This protein belongs to a group known as Rho GTPase activating proteins (GAPs), which regulate GTPases involved in chemical signaling within cells.
Rac GTPase-activating protein 1 interacts with other proteins, such as the protein produced by the KIF23 gene, to form a complex called centralspindlin. This complex regulates cytokinesis, the process by which dividing cells separate from one another. This protein is particularly important in the bone marrow for erythropoiesis, the differentiation and development of red blood cells.
Health Conditions Related to Genetic Changes
Congenital dyserythropoietic anemia
Variants in the RACGAP1 gene have been identified in people with congenital dyserythropoietic anemia (CDA) type III. This condition is characterized by a shortage of red blood cells due to abnormal formation.
- Mechanism: Variants in the gene likely reduce the protein's function and its ability to interact with other proteins. This impairs cytokinesis and the development of red blood cells.
- Cellular impact: In affected individuals, immature red blood cells (erythroblasts) are large and contain more than one nucleus. These abnormal cells cannot mature into functional red blood cells.
- Symptoms: The resulting shortage of healthy red blood cells leads to anemia, weakness, an enlarged liver and spleen (hepatosplenomegaly), and iron overload.
Other Names for This Gene
- CYK4
- HsCYK-4
- Male germ cell RacGap
- MgcRacGAP