Serotonin Transporter - Genetics

Genetics

The gene that encodes the serotonin transporter is called solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4, see Solute carrier family). In humans the gene is found on chromosome 17 on location 17q11.1–q12.

Mutations associated with the gene may result in changes in serotonin transporter function, and experiments with mice have identified more the 50 different phenotypic changes as a result of genetic variation. These phenotypic changes may, e.g., be increased anxiety and gut dysfunction. Some of the human genetic variations associated with the gene are:

• Length variation in the serotonin-transporter-gene-linked polymorphic region (5-HTTLPR)
• rs25531 — a single nucleotide polymorphism (SNP) in the 5-HTTLPR
• rs25532 — another SNP in the 5-HTTLPR
• STin2 — a variable number of tandem repeats (VNTR) in the functional intron 2
• G56A on the second exon
• I425V on the ninth exon