Gene: SLC6A3

Alternate names for this Gene: DAT|DAT1|PKDYS|PKDYS1

Gene Summary: This gene encodes a dopamine transporter which is a member of the sodium- and chloride-dependent neurotransmitter transporter family. The 3' UTR of this gene contains a 40 bp tandem repeat, referred to as a variable number tandem repeat or VNTR, which can be present in 3 to 11 copies. Variation in the number of repeats is associated with idiopathic epilepsy, attention-deficit hyperactivity disorder, dependence on alcohol and cocaine, susceptibility to Parkinson disease and protection against nicotine dependence.

Gene is located in Chromosome: 5

Location in Chromosome : 5p15.33

Description of this Gene: solute carrier family 6 member 3

Type of Gene: protein-coding

rs365663 in SLC6A3 gene and Duration of sleep PMID 30846698 2019 Genome-wide association study identifies genetic loci for self-reported habitual sleep duration supported by accelerometer-derived estimates.

PMID 30804565 2019 Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.

rs431905504 in SLC6A3 gene and Extrapyramidal sign PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

rs431905504 in SLC6A3 gene and Febrile Convulsions PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

rs431905504 in SLC6A3 gene and Global developmental delay PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

rs431905504 in SLC6A3 gene and Hip Dysplasia PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

rs267607068 in SLC6A3 gene and PARKINSONISM-DYSTONIA, INFANTILE, 1 PMID 19478460 2009 Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.

PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

rs431905504 in SLC6A3 gene and Pediatric failure to thrive PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

rs431905504 in SLC6A3 gene and Quadriplegia PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

rs431905504 in SLC6A3 gene and Scoliosis, unspecified PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.

rs431905504 in SLC6A3 gene and Spina Bifida Occulta PMID 22279524 2012 Genetic mapping and exome sequencing identify variants associated with five novel diseases.