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The ARHGAP gene family provides instructions for making proteins known as Rho GTPase activating proteins (Rho GAPs). Rho GAPs interact with proteins called Rho GTPases, stimulating (activating) a reaction that ultimately turns them off. GTPases are turned on when they are attached (bound) to a molecule called GTP and are turned off when they are attached to a molecule called GDP. Rho GAPs turn off GTPases by changing the attached GTP into GDP.
Active Rho GTPases play an important role in chemical signaling within cells. They bind to a variety of proteins (known as effectors) to regulate cellular processes including cell growth and division (proliferation), maturation (differentiation) of cells, and cell movement. Rho GTPases also play a role in regulating the first step in the production of proteins from genes (transcription) and the organization of the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework.
Mutations in genes within the ARHGAP gene family can alter the function of Rho GAP proteins, which leads to abnormal regulation of Rho GTPases. Too much or too little Rho GTPase activity affects chemical signaling pathways and the cellular processes that they control, which can lead to a variety of disorders. For example, mutations in the ARHGAP31 gene lead to Adams-Oliver syndrome, a condition characterized by abnormal development of the skin and bones. Mutations in the CHN1 gene cause isolated Duane retraction syndrome, which is associated with underdevelopment of the nerves and muscles that control the eyes, leading to impaired eye movement.
The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the ARHGAP family (http://www.genenames.org/genefamilies/ARHGAP).
Genetics Home Reference summarizes the normal function and health implications of these members of the ARHGAP gene family: ARHGAP31 and CHN1.
Genetics Home Reference includes these conditions related to genes in the ARHGAP gene family:
You may find the following resources about the ARHGAP gene family helpful.
actin ; cell ; cytoskeleton ; differentiation ; gene ; GTP ; hydrolysis ; molecule ; proliferation ; protein ; syndrome ; transcription
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
These sources were used to develop the Genetics Home Reference summary for the ARHGAP gene family.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.