SLC6A8

Solute carrier family 6 (neurotransmitter transporter, creatine), member 8
Identifiers
Symbol(s)	SLC6A8; CT1; CRTR; MGC87396
External IDs	OMIM: 300036 MGI: 2147834 Homologene: 4113
Gene ontology Molecular Function: • molecular_function • creatine:sodium symporter activity • neurotransmitter:sodium symporter activity • symporter activity • sodium ion binding Cellular Component: • cellular_component • integral to plasma membrane • membrane Biological Process: • neurotransmitter uptake • ion transport • sodium ion transport • neurotransmitter transport • muscle contraction • biological_process
RNA expression pattern
250px 250px 250px More reference expression data
Orthologs
	Human	Mouse
Entrez	6535	102857
Ensembl	ENSG00000130821	ENSMUSG00000019558
Uniprot	P48029	Q684J3
Refseq	NM_005629 (mRNA) NP_005620 (protein)	NM_133987 (mRNA) NP_598748 (protein)
Location	Chr X: 152.43 - 152.62 Mb	Chr X: 69.93 - 69.94 Mb
Pubmed search	[1]	[2]

Solute carrier family 6 (neurotransmitter transporter, creatine), member 8, also known as SLC6A8, is a human gene.

See also

• Sodium:neurotransmitter symporter
• Solute carrier family

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. PMID 7622069.
• Gregor P, Nash SR, Caron MG, et al. (1995). "Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD.". Genomics 25 (1): 332-3. PMID 7774949.
• 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. 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. 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. 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. 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. 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. 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. 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. 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.

Template:Membrane-protein-stub This article incorporates text from the United States National Library of Medicine, which is in the public domain.