Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)

Stable Identifier
R-HSA-5619081
Type
Pathway
Species
Homo sapiens
ReviewStatus
5/5
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Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)
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The human gene SLC6A3 encodes the sodium-dependent dopamine transporter DAT which mediates the Na-dependent re-uptake of dopamine (DA) from the synaptic cleft back into cells, thereby terminating the action of DA (Broer & Gether 2012, Schweikhard & Ziegler 2012). Defects in SLC6A3 can cause Parkinsonism-dystonia infantile (PKDYS; MIM:613135), a neurodegenerative disorder characterised by infantile onset of parkinsonism and dystonia (Kurian et al. 2011).
Literature References
PubMed ID Title Journal Year
21777827 The monoamine neurotransmitter disorders: an expanding range of neurological syndromes

Gissen, P, Heales, S, Kurian, MA, Clayton, PT, Smith, M

Lancet Neurol 2011
22519513 The solute carrier 6 family of transporters

Gether, U, Broer, S

Br. J. Pharmacol. 2012
23177982 Amino acid secondary transporters: toward a common transport mechanism

Schweikhard, ES, Ziegler, CM

Curr Top Membr 2012
Participants
Events
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as an event of
Disease
Name Identifier Synonyms
neurodegenerative disease DOID:1289 degenerative disease, Neurodegenerative disease
Cross References
BioModels Database
Authored
Jassal, B  (2014-08-22)
Reviewed
Broer, S  (2015-08-04)
Created
Jassal, B  (2014-08-22)
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