PRRT2
Encyclopedia
Proline-rich transmembrane protein 2 is a protein
that in humans is encoded by the PRRT2 gene
.
PRRT2 encodes a proline
-rich transmembrane protein
. It has been shown to be the cause of paroxysmal kinesigenic dyskinesia
.
Protein
Proteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the PRRT2 gene
Gene
A gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
.
PRRT2 encodes a proline
Proline
Proline is an α-amino acid, one of the twenty DNA-encoded amino acids. Its codons are CCU, CCC, CCA, and CCG. It is not an essential amino acid, which means that the human body can synthesize it. It is unique among the 20 protein-forming amino acids in that the α-amino group is secondary...
-rich transmembrane protein
Transmembrane protein
A transmembrane protein is a protein that goes from one side of a membrane through to the other side of the membrane. Many TPs function as gateways or "loading docks" to deny or permit the transport of specific substances across the biological membrane, to get into the cell, or out of the cell as...
. It has been shown to be the cause of paroxysmal kinesigenic dyskinesia
Paroxysmal kinesogenic choreoathetosis
Wikipedia ArticleParoxysmal kinesigenic choreathetosis, ' also called Paroxysmal Kinesigenic Dyskinesia ' is a hyperkinetic movement disorder characterized by attacks of involuntary movements, which are triggered by sudden voluntary movements...
.