RHOBTB2
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Rho-related BTB domain-containing protein 2 is a protein that in humans is encoded by the RHOBTB2 gene.[5][6]
External IDsOMIM: 607352; MGI: 2180557; HomoloGene: 22873; GeneCards: RHOBTB2; OMA:RHOBTB2 - orthologs
| RHOBTB2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | RHOBTB2, DBC2, Rho related BTB domain containing 2, EIEE64, p83, DEE64 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 607352; MGI: 2180557; HomoloGene: 22873; GeneCards: RHOBTB2; OMA:RHOBTB2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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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][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.
