KEGG   VARIANT: 6531v1
Entry
6531v1                      Variant                                
Name
SLC6A3 mutation
Type
Loss of function
Gene
SLC6A3  solute carrier family 6 member 3 [KO:K05036]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 126455
Network
nt06028  Dopamine and serotonin metabolism
nt06544  Neuroactive ligand signaling
Disease
H02676  Infantile-onset parkinsonism-dystonia
Reference
PMID:19478460
  Authors
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
  Title
Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.
  Journal
J Clin Invest 119:1595-603 (2009)
DOI:10.1172/JCI39060
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