SLC6A4 Chromosome 17
Solute carrier family 6 member 4
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What This Gene Does
This gene encodes an integral membrane protein that transports the neurotransmitter serotonin from synaptic spaces into presynaptic neurons. The encoded protein terminates the action of serotonin and recycles it in a sodium-dependent manner. This protein is a target of psychomotor stimulants, such as amphetamines and cocaine, and is a member of the sodium:neurotransmitter symporter family. A repeat length polymorphism in the promoter of this gene has been shown to affect the rate of serotonin uptake. There have been conflicting results in the literature about the possible effect, if any, that this polymorphism may play in behavior and depression. [provided by RefSeq, May 2019]
Gene Info
Gene Group
Solute carrier family 6
Locus Type
gene with protein product
Location
17q11.2
Ensembl
ENSG00000108576
Associated Conditions (2)
Behavior disorder
Obsessive-compulsive disorder
Key Variants
RS41274284
Conflicting classifications of pathogenicity
Behavior disorder, Behavior disorder
Health Risk
RS74845752
Conflicting classifications of pathogenicity
Behavior disorder, Behavior disorder
Health Risk
RS2143013401
Likely pathogenic
Obsessive-compulsive disorder, Obsessive-compulsive disorder
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS41274284 | Health Risk | Conflicting classifications of pathogenicity | Behavior disorder, Behavior disorder |
| RS74845752 | Health Risk | Conflicting classifications of pathogenicity | Behavior disorder, Behavior disorder |
| RS2143013401 | Health Risk | Likely pathogenic | Obsessive-compulsive disorder, Obsessive-compulsive disorder |