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, respo ...
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 ba ...
.
RHOBTB2 is a member of the evolutionarily-conserved
RhoBTB
The RhoBTB family is a subgroup of the Rho family of small GTPases. They are a highly divergent class and are all characterized by an N-terminal Rho-related domain followed by at least one C-terminal BTB domain.
Discovery
The RhoBTB fami ...
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
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 of the Ras superfamily
The Ras superfamily, derived from "Rat sarcoma virus" ...
(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 t ...
, 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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