Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)

Stable Identifier
R-HSA-5660724
Type
Pathway
Species
Homo sapiens
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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
22519513 The solute carrier 6 family of transporters

Broer, S, Gether, U

Br. J. Pharmacol. 2012
21777827 The monoamine neurotransmitter disorders: an expanding range of neurological syndromes

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

Lancet Neurol 2011
23177982 Amino acid secondary transporters: toward a common transport mechanism

Schweikhard, ES, Ziegler, CM

Curr Top Membr 2012
Participants
Participant Of
Disease
Name Identifier Synonyms
neurodegenerative disease 1289 degenerative disease, Neurodegenerative disease
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