ARHGAP26

Interaction of a cell with the extracellular matrix triggers integrin cell surface receptors to begin signaling cascades that regulate the organization of the actin-cytoskeleton. One of the proteins involved in these cascades is focal adhesion kinase. The

Full Name

Rho GTPase Activating Protein 26

Function

GTPase-activating protein for RHOA and CDC42.

Biological Process

Actin cytoskeleton organization Source: UniProtKB
Nervous system development Source: UniProtKB
Regulation of small GTPase mediated signal transduction Source: Reactome
Signal transduction Source: InterPro

Cellular Location

Cytoskeleton; Focal adhesion. Colocalizes with actin stress fibers and cortical actin structures.

Involvement in disease

Leukemia, juvenile myelomonocytic (JMML): The gene represented in this entry is involved in disease pathogenesis. A chromosomal translocation t(5;11)(q31;q23) with KMT2A/MLL1 has been found in leukemic cells from JMML patients, also carrying inactivating mutations on the second allele (PubMed:10908648). An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages.