Rho-related BTB domain-containing protein 2 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''RHOBTB2''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
RHOBTB2 is a member of the evolutionarily-conserved
RhoBTB subfamily of
Rho GTPases. For background information on RhoBTBs, see
RHOBTB1
Rho-related BTB domain-containing protein 1 is a protein that in humans is encoded by the ''RHOBTB1'' gene.
The protein encoded by this gene belongs to the Rho family, which is part of the Ras superfamily
The Ras superfamily, derived from "Rat ...
(MIM 607351).
upplied by OMIMref name="entrez" />
Clinical significance
Mutations affecting ''RHOBTB2'' can cause epilepsy, learning difficulties and movement disorders.
''RHOBTB2''-related disorders are
autosomal dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...
, 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
Further reading
*
*
*
*
*
*
*
*
*
{{gene-8-stub