Rho-related BTB domain-containing protein 2 is a protein that in humans is encoded by the RHOBTB2gene.[5][6]
RHOBTB2 is a member of the evolutionarily-conserved RhoBTB subfamily of Rho GTPases. For background information on RhoBTBs, see RHOBTB1 (MIM 607351).[supplied by OMIM][6]
Clinical significance
Mutations affecting RHOBTB2 can cause epilepsy, learning difficulties and movement disorders.[7]RHOBTB2-related disorders are autosomal dominant, meaning only one of the two copies of the gene needs to be mutated to cause disease. The mutations usually occur de novo – that is, as a new mutation occurring in the affected individual rather than having been inherited.
Ramos S, Khademi F, Somesh BP, Rivero F (2003). "Genomic organization and expression profile of the small GTPases of the RhoBTB family in human and mouse". Gene. 298 (2): 147–57. doi:10.1016/S0378-1119(02)00980-0. PMID12426103.
Ohadi M, Totonchi M, Maguire P, et al. (2007). "Mutation analysis of the DBC2 gene in sporadic and familial breast cancer". Acta Oncologica. 46 (6): 770–2. doi:10.1080/02841860601047752. PMID17653899.