Defective SLC6A3 does not cotransport DA, Na+ from extracellular region to cytosol

Stable Identifier
R-HSA-5660706
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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. Defects in SLC6A3 can cause Parkinsonism-dystonia infantile (PKDYS; MIM:613135), a neurodegenerative disorder characterised by infantile onset of parkinsonism and dystonia. Mutations that can cause PKDYS include L368Q, P395L, L224P and R521W (Kurian et al. 2009, Kurian et al. 2011).

Literature References
PubMed ID Title Journal Year
19478460 Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia

Kurian, MA, Zhen, J, Cheng, SY, Li, Y, Mordekar, SR, Jardine, P, Morgan, NV, Meyer, E, Tee, L, Pasha, S, Wassmer, E, Heales, SJ, Gissen, P, Reith, ME, Maher, ER

J. Clin. Invest. 2009
21112253 Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

Kurian, MA, Li, Y, Zhen, J, Meyer, E, Hai, N, Christen, HJ, Hoffmann, GF, Jardine, P, von Moers, A, Mordekar, SR, O'Callaghan, F, Wassmer, E, Wraige, E, Dietrich, C, Lewis, T, Hyland, K, Heales, S, Sanger, T, Gissen, P, Assmann, BE, Reith, ME, Maher, ER

Lancet Neurol 2011
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
monoamine transmembrane transporter activity of SLC6A3 mutants [plasma membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
neurodegenerative disease 1289 degenerative disease, Neurodegenerative disease
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