Proline-rich transmembrane 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 ''PRRT2''
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 ...
.
Structure and tissue distribution
This gene encodes a
transmembrane protein
A transmembrane protein is a type of integral membrane protein that spans the entirety of the cell membrane. Many transmembrane proteins function as gateways to permit the transport of specific substances across the membrane. They frequently un ...
containing a
proline
Proline (symbol Pro or P) is an organic acid classed as a proteinogenic amino acid (used in the biosynthesis of proteins), although it does not contain the amino group but is rather a secondary amine. The secondary amine nitrogen is in the p ...
-rich domain in its
N-terminal
The N-terminus (also known as the amino-terminus, NH2-terminus, N-terminal end or amine-terminus) is the start of a protein or polypeptide, referring to the free amine group (-NH2) located at the end of a polypeptide. Within a peptide, the amin ...
half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages.
Clinical significance
Mutations in this gene are associated with a number of movement disorders, most commonly
paroxysmal kinesigenic dyskinesia where approximately 1/3 of cases will harbor mutations in ''PRRT2''.
It has also been associated with episodic
ataxia
Ataxia (from Greek α- negative prefix+ -τάξις rder= "lack of order") is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in e ...
s, and in particular in combination with various types of epilepsy.
Mutations in ''PRRT2'' lead also to hemiplegic migraine.
See also
*
Paroxysmal kinesogenic choreoathetosis
*
Hemiplegic migraine
References
External links
GeneReviews/NIH/NCBI/UW entry on Familial Paroxysmal Kinesigenic Dyskinesia OMIM entries on Familial Paroxysmal Kinesigenic DyskinesiaNCBI gene
Neurological disorders
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