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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD08896Q7Z6L011247
PRRT2
Proline-rich transmembrane protein 2
Homo sapiens
PTMD09684Q8N4L125647
TMEM151A
Transmembrane protein 151A
Homo sapiens