Abr, rhogef and gtpase activating protein

The ABR activator of RhoGEF and GTPase, also symbolized as ABR, gene is located on Chromosome 11 and has a reported 13 alternatively spliced transcript variants.[6] This gene is found to have ubiquitous expression within 23 human tissues, including the heart and brain.[7] The protein encoded by ABR shares homology with the Breakpoint Cluster Region (BCR) gene located on chromosome 22 and has shown to share similar protein functions.[8] Additionally, the protein encoded by this gene contains a GTPase-activating protein domain, a domain found in members of the Rho family of GTP-binding proteins. The ABR gene is an inhibitor of ras-related C3 botulinum toxin substrate 1 (RAC1), a protein found to influence cell growth, motility of the cell, and maintain adhesion to neighboring epithelial cells.[9] Recent papers suggest ABR has tumor suppressor properties in Leukemia because of its role as a RAC1 inhibitor and is being researched as a potential therapy treatment in Leukemia patients.[10] Other studies suggest ABR plays an important role in vestibular morphogenesis.[11]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.