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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

SLC6A4

The information on this page was automatically extracted from online scientific databases.

What is the official name of the SLC6A4 gene?

The official name of this gene is “solute carrier family 6 (neurotransmitter transporter), member 4.”

SLC6A4 is the gene's official symbol. The SLC6A4 gene is also known by other names, listed below.

What is the normal function of the SLC6A4 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6532):

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 and may play a role in sudden infant death syndrome, aggressive behavior in Alzheimer disease patients, and depression-susceptibility in people experiencing emotional trauma. [provided by RefSeq, Jul 2008]

From UniProt (http://www.uniprot.org/uniprot/P31645):

Serotonin transporter whose primary function in the central nervous system involves the regulation of serotonergic signaling via transport of serotonin molecules from the synaptic cleft back into the pre-synaptic terminal for re-utilization. Plays a key role in mediating regulation of the availability of serotonin to other receptors of serotonergic systems. Terminates the action of serotonin and recycles it in a sodium-dependent manner.

How are changes in the SLC6A4 gene related to health conditions?

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6532) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the SLC6A4 gene.
  • Anxiety
  • Obsessive-compulsive disorder
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the SLC6A4 gene and its association with health conditions.
OMIM
Number
Title

Where is the SLC6A4 gene located?

Cytogenetic Location: 17q11.2

Molecular Location on chromosome 17: base pairs 30,194,318 to 30,235,967

The SLC6A4 gene is located on the long (q) arm of chromosome 17 at position 11.2.

The SLC6A4 gene is located on the long (q) arm of chromosome 17 at position 11.2.

More precisely, the SLC6A4 gene is located from base pair 30,194,318 to base pair 30,235,967 on chromosome 17.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about SLC6A4?

You and your healthcare professional may find the following resources about SLC6A4 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SLC6A4 gene or gene products?

  • 5HTT
  • 5-HTT
  • 5-HTTLPR
  • hSERT
  • HTT
  • OCD1
  • SERT
  • SERT1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding SLC6A4?

anxiety ; central nervous system ; depression ; gene ; mediating ; mutation ; nervous system ; obsessive-compulsive disorder ; polymorphism ; presynaptic ; promoter ; protein ; psychomotor ; sodium ; susceptibility ; syndrome ; trauma

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: June 29, 2015