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SLC6A8 gene

solute carrier family 6 member 8
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Normal Function

The SLC6A8 gene provides instructions for making a protein called sodium- and chloride-dependent creatine transporter 1. This protein transports the compound creatine into cells. Creatine is needed for the body to store and use energy properly.

Health Conditions Related to Genetic Changes

X-linked creatine deficiency

At least 80 mutations in the SLC6A8 gene have been identified in people with X-linked creatine deficiency, a disorder that causes intellectual disability, behavioral problems, seizures, and muscle weakness. SLC6A8 gene mutations impair the ability of the transporter protein to bring creatine into cells, resulting in a creatine shortage (deficiency). The effects of creatine deficiency are most severe in organs and tissues that require large amounts of energy, especially the brain.

More About This Health Condition

Other Names for This Gene

  • creatine transporter 1
  • creatine transporter SLC6A8
  • CRT
  • CRTR
  • CT1
  • MGC87396
  • SC6A8_HUMAN
  • sodium- and chloride-dependent creatine transporter 1
  • solute carrier family 6 (neurotransmitter transporter), member 8
  • solute carrier family 6 (neurotransmitter transporter, creatine), member 8

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Research Resources

References

  • Braissant O, Henry H, Béard E, Uldry J. Creatine deficiency syndromes and the importance of creatine synthesis in the brain. Amino Acids. 2011 May;40(5):1315-24. doi: 10.1007/s00726-011-0852-z. Epub 2011 Mar 10. Review. Citation on PubMed
  • Béard E, Braissant O. Synthesis and transport of creatine in the CNS: importance for cerebral functions. J Neurochem. 2010 Oct;115(2):297-313. doi: 10.1111/j.1471-4159.2010.06935.x. Epub 2010 Aug 25. Review. Citation on PubMed
  • Clark AJ, Rosenberg EH, Almeida LS, Wood TC, Jakobs C, Stevenson RE, Schwartz CE, Salomons GS. X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology. Hum Genet. 2006 Jul;119(6):604-10. Epub 2006 Apr 26. Citation on PubMed
  • Nasrallah F, Feki M, Kaabachi N. Creatine and creatine deficiency syndromes: biochemical and clinical aspects. Pediatr Neurol. 2010 Mar;42(3):163-71. doi: 10.1016/j.pediatrneurol.2009.07.015. Review. Citation on PubMed
  • Rosenberg EH, Martínez Muñoz C, Betsalel OT, van Dooren SJ, Fernandez M, Jakobs C, deGrauw TJ, Kleefstra T, Schwartz CE, Salomons GS. Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application. Hum Mutat. 2007 Sep;28(9):890-6. Citation on PubMed
  • Salomons GS, van Dooren SJ, Verhoeven NM, Marsden D, Schwartz C, Cecil KM, DeGrauw TJ, Jakobs C. X-linked creatine transporter defect: an overview. J Inherit Metab Dis. 2003;26(2-3):309-18. Review. Citation on PubMed
  • Stockler-Ipsiroglu S, van Karnebeek CD. Cerebral creatine deficiencies: a group of treatable intellectual developmental disorders. Semin Neurol. 2014 Jul;34(3):350-6. doi: 10.1055/s-0034-1386772. Epub 2014 Sep 5. Review. Erratum in: Semin Neurol. 2014 Sep;34(4):479. Citation on PubMed
  • Sykut-Cegielska J, Gradowska W, Mercimek-Mahmutoglu S, Stöckler-Ipsiroglu S. Biochemical and clinical characteristics of creatine deficiency syndromes. Acta Biochim Pol. 2004;51(4):875-82. Review. Citation on PubMed
  • van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet. 2013 Jul;50(7):463-72. doi: 10.1136/jmedgenet-2013-101658. Epub 2013 May 3. Citation on PubMed
  • van de Kamp JM, Mancini GM, Salomons GS. X-linked creatine transporter deficiency: clinical aspects and pathophysiology. J Inherit Metab Dis. 2014 Sep;37(5):715-33. doi: 10.1007/s10545-014-9713-8. Epub 2014 May 1. Review. Citation on PubMed
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