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Protein-coding gene in the species Homo sapiens
Rho-related BTB domain-containing protein 2 is a protein that in humans is encoded by the RHOBTB2 gene .[ 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 [ edit ] Mutations affecting RHOBTB2 can cause epilepsy, learning difficulties and movement disorders.[ 7] [ 8] 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.
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