SLC6A8

Solute carrier family 6 (neurotransmitter transporter), member 8
Identifiers
Symbols	SLC6A8 ; CCDS1; CRT; CRTR; CT1; CTR5
External IDs	OMIM: 300036 MGI: 2147834 HomoloGene: 4113 GeneCards: SLC6A8 Gene
Gene ontology Molecular function • molecular_function • creatine transmembrane transporter activity • creatine:sodium symporter activity • neurotransmitter:sodium symporter activity Cellular component • cellular_component • plasma membrane • integral component of plasma membrane • integral component of membrane Biological process • creatine metabolic process • transport • sodium ion transport • neurotransmitter transport • muscle contraction • biological_process • creatine transport • cellular nitrogen compound metabolic process • small molecule metabolic process • creatine transmembrane transport Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	6535	102857
Ensembl	ENSG00000130821	ENSMUSG00000019558
UniProt	P48029	Q8VBW1
RefSeq (mRNA)	NM_001142805	NM_001142809
RefSeq (protein)	NP_001136277	NP_001136281
Location (UCSC)	Chr X: 153.69 – 153.7 Mb	Chr X: 73.67 – 73.68 Mb
PubMed search

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

See also

• Sodium:neurotransmitter symporter
• Solute carrier family

References

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

External links

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

Further reading

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

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