solute carrier family 6 member 3
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A SLC6A3 gene provides instructions for making a protein called the dopamine transporter or DAT. This protein is embedded in the membrane of certain nerve cells (neurons) in the brain, where it transports a molecule called dopamine into the cell. Dopamine is a chemical messenger (neurotransmitter) that relays signals from one neuron to another. Dopamine has many important functions, including playing complex roles in thought (cognition), motivation, behaviour, and control of movement.
Normal function
A SLC6A3 gene provides instructions for making a protein called the dopamine transporter or DAT. This protein is embedded in the membrane of certain nerve cells (neurons) in the brain, where it transports a molecule called dopamine into the cell. Dopamine is a chemical messenger (neurotransmitter) that relays signals from one neuron to another. Dopamine has many important functions, including playing complex roles in thought (cognition), motivation, behaviour, and control of movement.
To transmit signals, dopamine is released into the space between neurons (the synaptic cleft), where it attaches (binds) to receptors on the surface of neighboring neurons. The dopamine transporter brings dopamine from the synaptic cleft back into neurons for reuse. The activity of the transporter determines how much dopamine is present in the synaptic cleft and for how long. This activity makes the transporter a major controller of dopamine signaling in the brain.
Conditions referring to this gene or chromosome
Other names
DA transporter
DAT
DAT1
dopamine transporter 1
PKDYS
sodium-dependent dopamine transporter
solute carrier family 6 (neurotransmitter transporter), member 3
solute carrier family 6 (neurotransmitter transporter, dopamine), member 3
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Leitura adicional e referências
- solute carrier family 6 member 3; MedlinePlus, National Library of Medicine.
- Bowton E, Saunders C, Reddy IA, Campbell NG, Hamilton PJ, Henry LK, Coon H, Sakrikar D, Veenstra-VanderWeele JM, Blakely RD, Sutcliffe J, Matthies HJ, Erreger K, Galli A. SLC6A3 coding variant Ala559Val found in two autism probands alters dopamine transporter function and trafficking. Transl Psychiatry. 2014 Oct 14;4(10):e464. doi: 10.1038/tp.2014.90.
- Chen N, Reith ME. Structure and function of the dopamine transporter. Eur J Pharmacol. 2000 Sep 29;405(1-3):329-39. doi: 10.1016/s0014-2999(00)00563-x.
- Faraone SV, Mick E. Molecular genetics of attention deficit hyperactivity disorder. Psychiatr Clin North Am. 2010 Mar;33(1):159-80. doi: 10.1016/j.psc.2009.12.004.
- Hamilton PJ, Campbell NG, Sharma S, Erreger K, Herborg Hansen F, Saunders C, Belovich AN; NIH ARRA Autism Sequencing Consortium; Sahai MA, Cook EH, Gether U, McHaourab HS, Matthies HJ, Sutcliffe JS, Galli A. De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder. Mol Psychiatry. 2013 Dec;18(12):1315-23. doi: 10.1038/mp.2013.102. Epub 2013 Aug 27.
- Hansen FH, Skjorringe T, Yasmeen S, Arends NV, Sahai MA, Erreger K, Andreassen TF, Holy M, Hamilton PJ, Neergheen V, Karlsborg M, Newman AH, Pope S, Heales SJ, Friberg L, Law I, Pinborg LH, Sitte HH, Loland C, Shi L, Weinstein H, Galli A, Hjermind LE, Moller LB, Gether U. Missense dopamine transporter mutations associate with adult parkinsonism and ADHD. J Clin Invest. 2014 Jul;124(7):3107-20. doi: 10.1172/JCI73778. Epub 2014 Jun 9.
- Kurian MA, Li Y, Zhen J, Meyer E, Hai N, Christen HJ, Hoffmann GF, Jardine P, von Moers A, Mordekar SR, O'Callaghan F, Wassmer E, Wraige E, Dietrich C, Lewis T, Hyland K, Heales S Jr, Sanger T, Gissen P, Assmann BE, Reith ME, Maher ER. Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study. Lancet Neurol. 2011 Jan;10(1):54-62. doi: 10.1016/S1474-4422(10)70269-6. Epub 2010 Nov 25.
- Kurian MA, Zhen J, Cheng SY, Li Y, Mordekar SR, Jardine P, Morgan NV, Meyer E, Tee L, Pasha S, Wassmer E, Heales SJ, Gissen P, Reith ME, Maher ER. Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia. J Clin Invest. 2009 Jun;119(6):1595-603. doi: 10.1172/JCI39060. Epub 2009 May 26.
- Li D, Sham PC, Owen MJ, He L. Meta-analysis shows significant association between dopamine system genes and attention deficit hyperactivity disorder (ADHD). Hum Mol Genet. 2006 Jul 15;15(14):2276-84. doi: 10.1093/hmg/ddl152. Epub 2006 Jun 14.
- Ng J, Zhen J, Meyer E, Erreger K, Li Y, Kakar N, Ahmad J, Thiele H, Kubisch C, Rider NL, Morton DH, Strauss KA, Puffenberger EG, D'Agnano D, Anikster Y, Carducci C, Hyland K, Rotstein M, Leuzzi V, Borck G, Reith ME, Kurian MA. Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood. Brain. 2014 Apr;137(Pt 4):1107-19. doi: 10.1093/brain/awu022. Epub 2014 Mar 10.
- Yang B, Chan RC, Jing J, Li T, Sham P, Chen RY. A meta-analysis of association studies between the 10-repeat allele of a VNTR polymorphism in the 3'-UTR of dopamine transporter gene and attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet. 2007 Jun 5;144B(4):541-50. doi: 10.1002/ajmg.b.30453.
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