solute carrier family 6 member 3
Annotations refreshed 1 month ago.
Diagnostic Grade (Green)
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalEarly onset dystonia
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalNeurotransmitter disorders
BIALLELIC, autosomal or pseudoautosomalParkinson Disease and Complex Parkinsonism
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal+3 more panels — install the extension to see the full list inline on any page.
Infantile dystonia-parkinsonism
classic dopamine transporter deficiency syndrome
parkinsonism-dystonia, infantile
attention deficit-hyperactivity disorder
major depressive disorder
Alzheimer disease
obesity disorder
Obesity
narcolepsy-cataplexy syndrome
sleep disorder
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Sodium-dependent dopamine transporter
Mediates sodium- and chloride-dependent transport of dopamine (PubMed:10375632, PubMed:11093780, PubMed:1406597, PubMed:15505207, PubMed:19478460, PubMed:39112701, PubMed:39112703, PubMed:39112705, PubMed:8302271). Also mediates sodium- and chloride-dependent transport of norepinephrine (also known as noradrenaline) (By similarity). Regulator of light-dependent retinal hyaloid vessel regression, downstream of OPN5 signaling (By similarity)
Curated MONDO disease pages that list SLC6A3 among their top associated genes.
SLC6A3 · Q01959
Mean pLDDT
86.9/ 100
Confident
620 residues
Confidence breakdown
AlphaFold (Jumper et al., 2021) · CC BY 4.0
