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 residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respon ...
that in humans is encoded by the ''RHOBTB2''
gene
In biology, the word gene (from , ; "... Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a b ...
.
RHOBTB2 is a member of the evolutionarily-conserved
RhoBTB subfamily of
Rho GTPases
Rho GTPase may refer to:
*Any member of the Rho family of GTPases
*The members of the Rho family of GTPases belonging to the ''Rho subclass''
*RHOA
Transforming protein RhoA, also known as Ras homolog family member A (RhoA), is a small GTPase p ...
. For background information on RhoBTBs, see
RHOBTB1 (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 effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and ...
, 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
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