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Normal Function
The RACGAP1 gene provides instructions for making the Rac GTPase-activating protein 1. This protein is one of many proteins known as Rho GTPase activating proteins (GAPs). GAPs regulate the activity of proteins called GTPases, which play an important role in chemical signaling within cells.
Rac GTPase-activating protein 1 interacts with several other proteins during various stages of cell division. For example, this protein attaches (binds) with the protein produced from the KIF23 gene to form a complex called centralspindlin, which helps regulate the process by which dividing cells separate from one another (cytokinesis). Rac GTPase-activating protein 1 appears to be particularly important in the bone marrow, where the differentiation and development of red blood cells (erythropoiesis) occurs.
Health Conditions Related to Genetic Changes
Congenital dyserythropoietic anemia
Variants (also called mutations) 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 that is caused by abnormal red blood cell formation (dyserythropoietic anemia). In people with CDA type III, immature red blood cells cannot develop into functional, mature cells. As a result, the number of mature and functioning red blood cells decreases, which leads to weakness, an enlarged liver and spleen (hepatosplenomegaly), and the buildup of too much iron (iron overload) in people with CDA type III.
Most RACGAP1 gene variants change single protein building blocks (amino acids) in the protein. The RACGAP1 gene variants that cause CDA type III likely reduce the function of the protein and its ability to interact with many other proteins. A shortage of functional Rac GTPase-activating protein 1 impairs cytokinesis and the normal development of red blood cells. In people with CDA type III, immature red blood cells called erythroblasts are large and have more than one nucleus. These abnormal erythroblasts cannot develop into functional, mature red blood cells. The resulting shortage of healthy red blood cells leads to the characteristic signs and symptoms of anemia and the other features of CDA type III.
More About This Health ConditionOther Names for This Gene
- CYK4
- HsCYK-4
- Male germ cell RacGap
- MgcRacGAP
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Hernandez G, Romero-Cortadellas L, Ferrer-Cortes X, Venturi V, Dessy-Rodriguez M, Olivella M, Husami A, De Soto CP, Morales-Camacho RM, Villegas A, Gonzalez-Fernandez FA, Morado M, Kalfa TA, Quintana-Bustamante O, Perez-Montero S, Tornador C, Segovia JC, Sanchez M. Mutations in the RACGAP1 gene cause autosomal recessive congenital dyserythropoietic anemia type III. Haematologica. 2023 Feb 1;108(2):581-587. doi: 10.3324/haematol.2022.281277. No abstract available. Citation on PubMed
- Iolascon A, Andolfo I, Russo R. Congenital dyserythropoietic anemias. Blood. 2020 Sep 10;136(11):1274-1283. doi: 10.1182/blood.2019000948. Citation on PubMed
- Wontakal SN, Britto M, Zhang H, Han Y, Gao C, Tannenbaum S, Durham BH, Lee MT, An X, Mishima M. RACGAP1 variants in a sporadic case of CDA III implicate the dysfunction of centralspindlin as the basis of the disease. Blood. 2022 Mar 3;139(9):1413-1418. doi: 10.1182/blood.2021012334. No abstract available. Citation on PubMed
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