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

Stable Identifier
Reaction [transition]
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. 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
21112253 Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study

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

Lancet Neurol 2011
19478460 Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia

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

J. Clin. Invest. 2009
Catalyst Activity

monoamine transmembrane transporter activity of SLC6A3 mutants [plasma membrane]

Normal reaction
Functional status

Loss of function of SLC6A3 mutants [plasma membrane]

Name Identifier Synonyms
neurodegenerative disease DOID:1289 degenerative disease, Neurodegenerative disease
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