Genes & Proteins Associated with Dystonia

Mutations in specific genes cause certain types of dystonia.

Genes encode proteins, which fulfill specific functions in the body. Here is a chart of DYT-designated genes associated with dystonia, the proteins they encode, and forms of dystonia. Please note that this is not a comprehensive list of all genes associated with dystonia; many disorders in which dystonia is a consistent and dominant feature were described before the DYT labels came into use.

Designation

Gene

Protein

Dystonia

Inheritance

Gene Locus

DYT1

TOR1A

TorsinA

Early-onset generalized torsion dystonia

Autosomal dominant

9q

DYT2

HPCA

Hippocalcin

Early onset segmental torsion dystonia

Autosomal recessive

1p

DYT3

TAF1

Transcription initiation factor TFIID subunit 1

X-linked dystonia parkinsonism

X-chromosomal recessive

Xq

DYT4

TUBB4a

β-tubulin 4a

Primary laryngeal and cervical dystonia - whispering dysphonia

Autosomal dominant

19p

DYT5/

DYT14

GCH1/TH

GTP cyclohydrolase 1/Tyrosine 3-monooxygenase

Dopa-responsive dystonia

Autosomal dominant

 

Autosomal

recessive

14q

 

 

11p

DYT6

THAP1

THAP domain containing, apoptosis associated protein 1

Adolescent-onset torsion dystonia of mixed type

Autosomal dominant

8p

DYT7

Unknown

Unknown

Adult-onset focal cervical and laryngeal dystonia

Autosomal dominant

18p

DYT8

PNKD1/MRI

Myofibrillogenesis regulator-1

Paroxysmal nonkinesigenic dyskinesia

Autosomal dominant

2q

DYT9/
DYT18

 

SLC2A1/

GLUT1

Glucose transporter protein type 1

Paroxysmal choreoathetosis with episodic ataxia and spasticity OR Paroxysmal exertion-induced dyskinesia 2

Autosomal dominant

1p

DYT10

PRRT2

Proline-rich transmembrane protein 2

Paroxysmal kinesigenic choreoathetosis

Autosomal dominant

16p

DYT11

SGCE

Epsilon-sarcoglycan

Myoclonus dystonia

Autosomal dominant

7q

DYT12

ATP1A3

Sodium/potassium-transporting ATPase subunit alpha-3

Rapid-onset dystonia-parkinsonism

Autosomal dominant

19q

DYT13

Unknown

Unknown

Multifocal/segmental dystonia

Autosomal dominant

1p

DYT15

Unknown

Unknown

Myoclonus-dystonia

Autosomal dominant

18p

DYT16

PRKRA

Protein kinase, interferon-inducible double stranded RNA dependent activator

Young-onset dystonia-parkinsonism

Autosomal recessive

2p

DYT17

Unknown

Unknown

Autosomal recessive primary torsion dystonia

Autosomal recessive

20pq

DYT19

Unknown

Unknown

Episodic kinesigenic dyskinesia 2

Autosomal dominant

16q

DYT20

Unknown

Unknown

Paroxysmal nonkinesigenic dyskinesia 2

Autosomal dominant

2q

DYT21

Unknown

Unknown

Late-onset

primary

torsion dystonia

Autosomal dominant

2q

DYT23

CIZ1

CDKN1A interacting zinc finger protein 1

Primary

cervical dystonia

Autosomal dominant

9q

DYT24

ANO3

Anoctamin 3

Primary cranial and cervical dystonia

Autosomal dominant

11p

DYT25

GNAL

Guanine nucleotide-binding protein G(olf), subunit alpha

Primary dystonia of varied anatomical symptoms and age of onset

Autosomal dominant

18p

DYT26

KCTD17

Potassium channel tetramerization domain-containing protein 17 Myoclonus-dystonia Autosomal dominant 22q
DYT27 COL6A3 Alpha-3 chain of type VI collagen Segmental isolated dystonia, early onset Autosomal recessive 2q
DYT28 KMT2B Lysine (K)-specific methyltransferase 2B Complex early-onset dystonia Autosomal dominant 19q


Click here for more information on genes associated with dystonia.

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