Rac GTPase activating protein 1
Ultimo aggiornamento 4 Mar 2025
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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.
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.
Conditions referring to this gene or chromosome
Altri nomi
CYK4
HsCYK-4
Male germ cell RacGap
MgcRacGAP
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Ulteriori letture e riferimenti
- Rac GTPase activating protein 1; MedlinePlus, National Library of Medicine.
- 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.
- Iolascon A, Andolfo I, Russo R. Congenital dyserythropoietic anemias. Blood. 2020 Sep 10;136(11):1274-1283. doi: 10.1182/blood.2019000948.
- 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.
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