Human Gene | UniProt Namea | Endogenous Substrate | Tissue Distribution | Link to Disease |
---|---|---|---|---|
SLC6A1 | GAT1 | GABA | Brain, peripheral nervous system | Epilepsy, schizophrenia, anxiety |
SLC6A2 | NET | Norepinephrine | Brain, peripheral nervous system, adrenal gland, placenta | Depression, orthostatic intolerance, anorexia nervosa, cardiovascular diseases |
SLC6A3 | DAT | Dopamine | Brain | Parkinson's disease, Tourette syndrome, ADHD, addiction |
SLC6A4 | SERT | Serotonin | Brain, peripheral nervous system, placenta, epithelium, platelets | Anxiety, depression, autism, gastrointestinal disorders, premature ejaculation, obesity |
SLC6A5 | GLYT2 | Glycine | Brain, spinal cord | Pain, spasticity |
SLC6A6 | TAUT | Taurine | Brain, retina, liver, kidney, heart, spleen, pancreas | Taurine deficiency diseases, retinal blindness, abnormal renal development |
SLC6A7 | PROT | Proline | Brain | |
SLC6A8 | CT1 | Creatine | Ubiquitous | Creatine deficiency syndrome, mental retardation, musculoskeletal disorders, cardiomyopathy |
SLC6A9 | GLYT1 | Glycine | Brain, pancreas, uterus, stomach, spleen, liver, retina | Schizophrenia |
SLC6A10b | ||||
SLC6A11 | GAT3 | GABA | Brain | Epilepsy |
SLC6A12 | BGT1 | Betaine, GABA | Brain, kidney | Epilepsy |
SLC6A13 | GAT2 | GABA | Brain, liver, kidney | Epilepsy |
SLC6A14 | ATB0+ | Neutral, cationic amino acids | Lung, trachea, salivary gland, mammary gland, stomach, pituitary gland | |
SLC6A15 | NTT73 | Large neutral amino acids | Brain | |
SLC6A16 | NTT5 | Unknown | Testis, pancreas, prostate | |
SLC6A17 | NTT4 | Neutral amino acids | Brain | |
SLC6A18 | B0AT3 | Neutral amino acids | Kidney | |
SLC6A19 | B0AT1 | Neutral amino acids | Intestine | Hartnup disorder |
SLC6A20 | XTRP3 | Proline, pipecolate, sarcosine | Brain, kidney, small intestine, thymus, spleen, ovary, lung |
↵a Universal Protein Resource (http://www.uniprot.org/).
↵b SLC6A10 has been proposed to be a pseudo gene duplicated from SLC6A8 because of the presence of a stop codon located in exon 4 of the gene (Eichler et al., 1997; Höglund et al., 2005).