RHOBTB2
Template:Short description Template:Cs1 config Template:Infobox gene Rho-related BTB domain-containing protein 2 is a protein that in humans is encoded by the RHOBTB2 gene.[1][2]
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][2]
Clinical significance
Mutations affecting RHOBTB2 can cause epilepsy, learning difficulties and movement disorders.[3][4] 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.
References
<templatestyles src="Reflist/styles.css" />
Script error: No such module "Check for unknown parameters".
Further reading
<templatestyles src="Refbegin/styles.css" />
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".
- Script error: No such module "Citation/CS1".