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Browse result for Episodic kinesigenic dyskinesia
※ introduction A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11.
Reference
DiseaseOntology: Episodic kinesigenic dyskinesia
Reference
DiseaseOntology: Episodic kinesigenic dyskinesia
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD08896 | Q7Z6L0 | 11247 | PRRT2 | Proline-rich transmembrane protein 2 | Homo sapiens |
| PTMD09684 | Q8N4L1 | 25647 | TMEM151A | Transmembrane protein 151A | Homo sapiens |
