SLC6A4

The gene that encodes the serotonin transporter is called solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4).

There are a number of other names for this gene, e.g., in humans it may be referred to as hSERT. Other aliases are 5-HTT, 5HTT, HTT, OCD1 and SERT according to GeneCards.

Researchers have found an uncommon mutation in SLC6A4, in some unrelated families with OCD, that leads to faulty transporter function and regulation. A second variant in the same gene of some patients with this mutation suggests a genetic "double hit", resulting in greater biochemical effects and more severe symptoms.

Noncoding polymorphisms
The promotor region of the SLC6A4 gene contains a polymorphism with "short" and "long" repeats in a region: 5-HTT-linked polymorphic region (5-HTTLPR). The short variation leads to less transcription of SLC6A4, and it has been found that it can partly account for anxiety-related personality traits. This polymorphism has been extensively investigated in over 300 scientific studies (as of 2006)

Another noncoding polymorphism is a VNTR in the second intron (STin2). It is found with three alleles: 9, 10 and 12 repeats.

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