RHOBTB2


Description

The RHOBTB2 (Rho related BTB domain containing 2) is a protein-coding gene located on chromosome 8.

The RHOBTB2 gene encodes a protein called Rho-related BTB domain-containing protein 2. This protein belongs to the RhoBTB subfamily of Rho GTPases. Mutations in RHOBTB2 can cause epilepsy, learning difficulties, and movement disorders. These disorders are inherited in an autosomal dominant manner, meaning only one copy of the gene needs to be mutated to cause the disease. The mutations usually arise spontaneously in the affected individual rather than being inherited from a parent.

RHOBTB2 is also known as DBC2, DEE64, EIEE64, p83.

Associated Diseases


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