SLC6A3 solute carrier family 6 member 3
Gene ID: 6531, updated on 5-Mar-2024Gene type: protein coding
Also known as: DAT; DAT1; PKDYS; PKDYS1
- See all available tests in GTR for this gene
- Go to complete Gene record for SLC6A3
- Go to Variation Viewer for SLC6A3 variants
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.[provided by RefSeq, Nov 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Classic dopamine transporter deficiency syndrome | See labs |
| Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. GeneReviews: Not available | |
| Tobacco addiction, susceptibility to | See labs |
Genomic context
- Location:
- 5p15.33
- Sequence:
- Chromosome: 5; NC_000005.10 (1392794..1445440, complement)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for SLC6A3 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SLC6A3 @ LOVD
- Variation ViewerRelated Variants
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