Sodium- and chloride-dependent creatine transporter 1 explained

Sodium- and chloride-dependent creatine transporter 1 is a protein that in humans is encoded by the SLC6A8 gene.^{[1] [2]}

Clinical significance

Mutations of the SLC6A8 gene can cause cerebral creatine deficiency syndrome 1.

See also

• • Solute carrier family

Further reading

• Barnwell LF, Chaudhuri G, Townsel JG . Cloning and sequencing of a cDNA encoding a novel member of the human brain GABA/noradrenaline neurotransmitter transporter family . Gene . 159 . 2 . 287–8 . 1995 . 7622069 . 10.1016/0378-1119(95)00104-E .
• Sora I, Richman J, Santoro G, etal . The cloning and expression of a human creatine transporter . Biochem. Biophys. Res. Commun. . 204 . 1 . 419–27 . 1994 . 7945388 . 10.1006/bbrc.1994.2475 .
• Nash SR, Giros B, Kingsmore SF, etal . Cloning, pharmacological characterization, and genomic localization of the human creatine transporter . Recept. Channels . 2 . 2 . 165–74 . 1994 . 7953292 .
• Iyer GS, Krahe R, Goodwin LA, etal . Identification of a testis-expressed creatine transporter gene at 16p11.2 and confirmation of the X-linked locus to Xq28 . Genomics . 34 . 1 . 143–6 . 1996 . 8661037 . 10.1006/geno.1996.0254 .
• Sandoval N, Bauer D, Brenner V, etal . The genomic organization of a human creatine transporter (CRTR) gene located in Xq28 . Genomics . 35 . 2 . 383–5 . 1996 . 8661155 . 10.1006/geno.1996.0373 .
• Grunau C, Hindermann W, Rosenthal A . Large-scale methylation analysis of human genomic DNA reveals tissue-specific differences between the methylation profiles of genes and pseudogenes . Hum. Mol. Genet. . 9 . 18 . 2651–63 . 2000 . 11063724 . 10.1093/hmg/9.18.2651 .
• Salomons GS, van Dooren SJ, Verhoeven NM, etal . X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome . Am. J. Hum. Genet. . 68 . 6 . 1497–500 . 2001 . 11326334 . 10.1086/320595 . 1226136 .
• Hahn KA, Salomons GS, Tackels-Horne D, etal . X-linked mental retardation with seizures and carrier manifestations is caused by a mutation in the creatine-transporter gene (SLC6A8) located in Xq28 . Am. J. Hum. Genet. . 70 . 5 . 1349–56 . 2002 . 11898126 . 10.1086/340092 . 447610 .
• Bizzi A, Bugiani M, Salomons GS, etal . X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8 . Ann. Neurol. . 52 . 2 . 227–31 . 2002 . 12210795 . 10.1002/ana.10246 . 6557065 .
• Wang W, Shang LH, Jacobs DO . Complement regulatory protein CD59 involves c-SRC related tyrosine phosphorylation of the creatine transporter in skeletal muscle during sepsis . Surgery . 132 . 2 . 334–40 . 2002 . 12219031 . 10.1067/msy.2002.125312 .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Rosenberg EH, Almeida LS, Kleefstra T, etal . High prevalence of SLC6A8 deficiency in X-linked mental retardation . Am. J. Hum. Genet. . 75 . 1 . 97–105 . 2004 . 15154114 . 10.1086/422102 . 1182013 .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Shojaiefard M, Christie DL, Lang F . Stimulation of the creatine transporter SLC6A8 by the protein kinases SGK1 and SGK3 . Biochem. Biophys. Res. Commun. . 334 . 3 . 742–6 . 2006 . 16036218 . 10.1016/j.bbrc.2005.06.164 .
• Dodd JR, Christie DL . Substituted cysteine accessibility of the third transmembrane domain of the creatine transporter: defining a transport pathway . J. Biol. Chem. . 280 . 38 . 32649–54 . 2005 . 16049011 . 10.1074/jbc.M506723200 . free .
• Schiaffino MC, Bellini C, Costabello L, etal . X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation . Neurogenetics . 6 . 3 . 165–8 . 2006 . 16086185 . 10.1007/s10048-005-0002-4 . 3045047 .
• Clark AJ, Rosenberg EH, Almeida LS, etal . X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology . Hum. Genet. . 119 . 6 . 604–10 . 2006 . 16738945 . 10.1007/s00439-006-0162-9 . 24863202 .

External links

• GeneReviews/NCBI/NIH/UW entry on Creatine Deficiency Syndromes

Notes and References

1. Gregor P, Nash SR, Caron MG, Seldin MF, Warren ST . Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD . Genomics . 25 . 1 . 332–3 . Jul 1995 . 7774949 . 10.1016/0888-7543(95)80155-F .
2. Web site: SLC6A8 solute carrier family 6 member 8 [Homo sapiens (human) ]].