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Gene Review

SLC6A8  -  solute carrier family 6 (neurotransmitter...

Homo sapiens

Synonyms: CCDS1, CRT, CRTR, CT1, CTR5, ...
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Disease relevance of SLC6A8


Psychiatry related information on SLC6A8

  • Two female relatives who are heterozygous for the SLC6A8 mutation also exhibit mild mental retardation with behavior and learning problems [5].

High impact information on SLC6A8


Chemical compound and disease context of SLC6A8


Biological context of SLC6A8


Anatomical context of SLC6A8


Associations of SLC6A8 with chemical compounds

  • The SLC6A8 deficient patients all show increased creatine/creatinine (Cr/Crn) ratio in urine demonstrating the importance of the Cr/Crn ratio as a pathognomonic marker of the SLC6A8 deficiency [15].
  • Twenty-two amino acid residues from transmembrane domain 3 of the creatine transporter were replaced, one at a time, with cysteine [16].
  • Here we show that the differential subsynaptic distribution of these antigens is due to a preference of CT1 for structures containing N-acetyl neuraminic acid (NeuAc) and a preference of CT2 for structures containing N-glycolyl neuraminic acid (NeuGc) [12].
  • Although significant differences were found between CT1 and CT2, there were no interactions between the various DET conditions [17].
  • Three genes were identified as being down regulated in the torsioned testis compared with controls: Control Testis genes 1, 2 and 3 (CT1, CT2 and CT3) [18].

Other interactions of SLC6A8


Analytical, diagnostic and therapeutic context of SLC6A8

  • Assignment of the human creatine transporter type 2 (SLC6A10) to chromosome band 16p11.2 by in situ hybridization [22].
  • Two estimates of carotid-vertebral artery transit times were measured: one time taken between the Q wave of the EKG to the commencement of the next succeeding impedance pulse-volume wave (CT1), and the other, this estimate together with the time to maximum point of the impedance wave (CT2) [23].
  • Like other members of the interleukin-6 family of cytokines, CT-1 stimulates both the p42/p44 mitogen-activated protein kinase pathway and the Janus-activated kinase/signal transducers and activators of transcription pathway [24].
  • Plasma CT-1 was determined by an enzyme-linked immunosorbent assay [25].
  • Final values of CT-1 were inversely correlated (r = 0.534, P < 0.001) with the decrease in LVMI after treatment in all patients [25].


  1. High prevalence of SLC6A8 deficiency in X-linked mental retardation. Rosenberg, E.H., Almeida, L.S., Kleefstra, T., deGrauw, R.S., Yntema, H.G., Bahi, N., Moraine, C., Ropers, H.H., Fryns, J.P., deGrauw, T.J., Jakobs, C., Salomons, G.S. Am. J. Hum. Genet. (2004) [Pubmed]
  2. The cloning and expression of a human creatine transporter. Sora, I., Richman, J., Santoro, G., Wei, H., Wang, Y., Vanderah, T., Horvath, R., Nguyen, M., Waite, S., Roeske, W.R. Biochem. Biophys. Res. Commun. (1994) [Pubmed]
  3. Stimulation of the creatine transporter SLC6A8 by the protein kinases SGK1 and SGK3. Shojaiefard, M., Christie, D.L., Lang, F. Biochem. Biophys. Res. Commun. (2005) [Pubmed]
  4. Complement regulatory protein CD59 involves c-SRC related tyrosine phosphorylation of the creatine transporter in skeletal muscle during sepsis. Wang, W., Shang, L.H., Jacobs, D.O. Surgery (2002) [Pubmed]
  5. X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28. Hahn, K.A., Salomons, G.S., Tackels-Horne, D., Wood, T.C., Taylor, H.A., Schroer, R.J., Lubs, H.A., Jakobs, C., Olson, R.L., Holden, K.R., Stevenson, R.E., Schwartz, C.E. Am. J. Hum. Genet. (2002) [Pubmed]
  6. Comparative frequency of fragile-X (FMR1) and creatine transporter (SLC6A8) mutations in X-linked mental retardation. Mandel, J.L. Am. J. Hum. Genet. (2004) [Pubmed]
  7. X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome. Salomons, G.S., van Dooren, S.J., Verhoeven, N.M., Cecil, K.M., Ball, W.S., Degrauw, T.J., Jakobs, C. Am. J. Hum. Genet. (2001) [Pubmed]
  8. Large-scale methylation analysis of human genomic DNA reveals tissue-specific differences between the methylation profiles of genes and pseudogenes. Grunau, C., Hindermann, W., Rosenthal, A. Hum. Mol. Genet. (2000) [Pubmed]
  9. Cloning and sequencing of a cDNA encoding a novel member of the human brain GABA/noradrenaline neurotransmitter transporter family. Barnwell, L.F., Chaudhuri, G., Townsel, J.G. Gene (1995) [Pubmed]
  10. Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28. Iyer, G.S., Krahe, R., Goodwin, L.A., Doggett, N.A., Siciliano, M.J., Funanage, V.L., Proujansky, R. Genomics (1996) [Pubmed]
  11. Molecular cloning of a murine N-acetylgalactosamine transferase cDNA that determines expression of the T lymphocyte-specific CT oligosaccharide differentiation antigen. Smith, P.L., Lowe, J.B. J. Biol. Chem. (1994) [Pubmed]
  12. Definition of pre- and postsynaptic forms of the CT carbohydrate antigen at the neuromuscular junction: ubiquitous expression of the CT antigens and the CT GalNAc transferase in mouse tissues. Hoyte, K., Kang, C., Martin, P.T. Brain Res. Mol. Brain Res. (2002) [Pubmed]
  13. Visualization of conserved structures by fusing highly variable datasets. Silverstein, J.C., Chhadia, A., Dech, F. Studies in health technology and informatics. (2002) [Pubmed]
  14. Biochemical and clinical characteristics of creatine deficiency syndromes. Sykut-Cegielska, J., Gradowska, W., Mercimek-Mahmutoglu, S., Stöckler-Ipsiroglu, S. Acta Biochim. Pol. (2004) [Pubmed]
  15. Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport. Almeida, L.S., Verhoeven, N.M., Roos, B., Valongo, C., Cardoso, M.L., Vilarinho, L., Salomons, G.S., Jakobs, C. Mol. Genet. Metab. (2004) [Pubmed]
  16. Substituted cysteine accessibility of the third transmembrane domain of the creatine transporter: defining a transport pathway. Dodd, J.R., Christie, D.L. J. Biol. Chem. (2005) [Pubmed]
  17. Effects of exercise detraining and deacclimation to the heat on plasma volume dynamics. Pivarnik, J.M., Senay, L.C. European journal of applied physiology and occupational physiology. (1986) [Pubmed]
  18. Differentially expressed DNA sequences following recovery from unilateral testicular torsion in rat. Ahmed, F.A., Jequier, A.M., Cummins, J.M., Whelan, J. Biochim. Biophys. Acta (2001) [Pubmed]
  19. Localization of human X chromosomal mental retardation (MRX) genes in chicken and comparison with the chicken genome sequence data. Kohn, M., Kehrer-Sawatzki, H., Hameister, H. Cytogenet. Genome Res. (2005) [Pubmed]
  20. Duplication of a gene-rich cluster between 16p11.1 and Xq28: a novel pericentromeric-directed mechanism for paralogous genome evolution. Eichler, E.E., Lu, F., Shen, Y., Antonacci, R., Jurecic, V., Doggett, N.A., Moyzis, R.K., Baldini, A., Gibbs, R.A., Nelson, D.L. Hum. Mol. Genet. (1996) [Pubmed]
  21. The genomic organization of a human creatine transporter (CRTR) gene located in Xq28. Sandoval, N., Bauer, D., Brenner, V., Coy, J.F., Drescher, B., Kioschis, P., Korn, B., Nyakatura, G., Poustka, A., Reichwald, K., Rosenthal, A., Platzer, M. Genomics (1996) [Pubmed]
  22. Assignment of the human creatine transporter type 2 (SLC6A10) to chromosome band 16p11.2 by in situ hybridization. Xu, W., Liu, L., Gorman, P.A., Sheer, D., Emson, P.C. Cytogenet. Cell Genet. (1997) [Pubmed]
  23. Carotid-vertebral artery blood transit time in health and in neurological patients: a preliminary study by a non-invasive impedance method. Doust, J.W. Diseases of the nervous system. (1977) [Pubmed]
  24. Cardiotrophin-1: a novel cytokine and its effects in the heart and other tissues. Latchman, D.S. Pharmacol. Ther. (2000) [Pubmed]
  25. Usefulness of plasma cardiotrophin-1 in assessment of left ventricular hypertrophy regression in hypertensive patients. González, A., López, B., Martín-Raymondi, D., Lozano, E., Varo, N., Barba, J., Serrano, M., Díez, J. J. Hypertens. (2005) [Pubmed]
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