Harmonizome 3.0

Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp

paroxysmal nonkinesigenic dyskinesia 2

paroxysmal nonkinesigenic dyskinesia

This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity)

Ventricular tachycardia, catecholaminergic polymorphic, 3

arrhythmogenic right ventricular dysplasia 4

arrhythmogenic right ventricular dysplasia 6

arrhythmogenic right ventricular dysplasia 3

myosin, light chain 3, alkali; ventricular, skeletal, slow

MYL3 encodes myosin light chain 3, an alkali light chain also referred to in the literature as both the ventricular isoform and the slow skeletal muscle isoform. Mutations in MYL3 have been identified as a cause of mid-left ventricular chamber type hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

ventricular zone expressed PH domain-containing 1

Predicted to enable phosphatidylinositol-5-phosphate binding activity. Involved in negative regulation of SMAD protein signal transduction and negative regulation of transforming growth factor beta receptor signaling pathway. Predicted to be located in endomembrane system. Predicted to be active in plasma membrane. [provided by Alliance of Genome Resources, Mar 2025]

noncompaction of left ventricular myocardium, familial isolated, autosomal dominant 2