Biology:Sodium- and chloride-dependent creatine transporter 1

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

Sodium- and chloride-dependent creatine transporter 1 is a protein that in humans is encoded by the SLC6A8 gene.

Clinical significance

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

See also

• Sodium:neurotransmitter symporter
• Solute carrier family

Further reading

• "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. doi:10.1016/0378-1119(95)00104-E. PMID 7622069. 
• "The cloning and expression of a human creatine transporter". Biochem. Biophys. Res. Commun. 204 (1): 419–27. 1994. doi:10.1006/bbrc.1994.2475. PMID 7945388. 
• "Cloning, pharmacological characterization, and genomic localization of the human creatine transporter". Recept. Channels 2 (2): 165–74. 1994. PMID 7953292. 
• "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. doi:10.1006/geno.1996.0254. PMID 8661037. 
• "The genomic organization of a human creatine transporter (CRTR) gene located in Xq28". Genomics 35 (2): 383–5. 1996. doi:10.1006/geno.1996.0373. PMID 8661155. 
• "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. doi:10.1093/hmg/9.18.2651. PMID 11063724. 
• "X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome". Am. J. Hum. Genet. 68 (6): 1497–500. 2001. doi:10.1086/320595. PMID 11326334. 
• "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. doi:10.1086/340092. PMID 11898126. 
• "X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8". Ann. Neurol. 52 (2): 227–31. 2002. doi:10.1002/ana.10246. PMID 12210795. 
• "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. doi:10.1067/msy.2002.125312. PMID 12219031. 
• "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. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M. 
• "High prevalence of SLC6A8 deficiency in X-linked mental retardation". Am. J. Hum. Genet. 75 (1): 97–105. 2004. doi:10.1086/422102. PMID 15154114. 
• "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. 2004. doi:10.1101/gr.2596504. PMID 15489334. 
• "Stimulation of the creatine transporter SLC6A8 by the protein kinases SGK1 and SGK3". Biochem. Biophys. Res. Commun. 334 (3): 742–6. 2006. doi:10.1016/j.bbrc.2005.06.164. PMID 16036218. 
• "Substituted cysteine accessibility of the third transmembrane domain of the creatine transporter: defining a transport pathway". J. Biol. Chem. 280 (38): 32649–54. 2005. doi:10.1074/jbc.M506723200. PMID 16049011. 
• "X-linked creatine transporter deficiency: clinical description of a patient with a novel SLC6A8 gene mutation". Neurogenetics 6 (3): 165–8. 2006. doi:10.1007/s10048-005-0002-4. PMID 16086185. 
• "X-linked creatine transporter (SLC6A8) mutations in about 1% of males with mental retardation of unknown etiology". Hum. Genet. 119 (6): 604–10. 2006. doi:10.1007/s00439-006-0162-9. PMID 16738945. 

External links

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

This article incorporates text from the United States National Library of Medicine, which is in the public domain.