SLC6A8

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Solute carrier family 6 (neurotransmitter transporter, creatine), member 8
Identifiers
Symbol(s) SLC6A8; CT1; CRTR; MGC87396
External IDs OMIM: 300036 MGI: 2147834 Homologene: 4113
RNA expression pattern

Image:PBB GE SLC6A8 202219 at tn.png

Image:PBB GE SLC6A8 210854 x at tn.png

Image:PBB GE SLC6A8 213843 x at tn.png

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.[1]



See also

References

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.

v • d • e
Membrane proteins, carrier proteins: membrane transport proteins
ABC-transporterA1, A2, A3, A4, A7, A8, A12, B1

B2-3, B2, B3, B4, B5, B6, B7, B9, B11

C1, C2, C3, C4, C5, C6, C8, C8-9, C10, C13, C11

D1, D2, D3, D4, E1, F1, F2

G1, G2, G4, Sterolin (G5, G8)
Solute carrier1A1-7, 1A1, 1A2, 1A3, 1A4, 1A5, 2A1, 2A2, 2A3, 2A4, 2A5, 2A6, 2A8, 2A9, 2A10, 2A12, 3A1, 3A2, 4A1, 4A2, 4A3, 4A4, 4A5, 4A7, 4A8, 4A11, 5A1-2, 5A1, 5A3, 5A5, 5A8, 6A1, 6A2, 6A3, 6A4, 6A5, 6A8, 6A9, 6A19, 7A1, 7A2, 7A3, 7A4, 7A5, 7A7, 7A8, 7A9, 7A11, 8A1-3, 9A1, 9A2, 9A3, 9A3R1, 9A3R2, 9A5, 9A6, 9A8, 10A1, 10A2, 10A3, 10A7, 11A1, 11A2, 11A3, 12A1-2, 12A3, 12A4, 12A5, 12A6, 12A7, 14A1, 13A3, 14A2, 15A1, 15A2, 16A1, 16A2, 16A3, 16A4, 17A1, 17A5, 17A6-8, 17A7, 18A1, 18A2, 18A3, 19A1, 19A2, 19A3, 20A1, 20A2, 22A1, 22A2, 22A3, 22A4, 22A5, 22A6, 22A7, 22A9, 22A11, 22A12, 22A18, 23A1, 23A2, 24A1-2, 24A5, 25A1, 25A3, 25A4, 25A4-6, 25A8, 25A10, 25A11, 25A12, 25A13, 25A14, 25A15, 25A17, 25A19, 25A20, 25A27, 25A31, 25A37, 25A39, 26A2, 26A3, 26A4, 26A5, 26A6, 26A7, 26A8, 27A1, 27A2, 27A3, 27A4, 28A1, 28A2, 29A1, 29A2, 29A4, 30A4, 30A7, 30A8, 31A1, 31A2, 32A1, 34A1, 34A2, 34A3, 35A1, 35A2, 35B2, 35B4, 35C1, 36A1, 37A4, 38A2, 38A3, 39A1, 39A2, 39A3, 39A4, 39A6, 39A7, 40A1, 43A1 44A1, 44A2, 44A4, 45A2, O1A2, O1B1, O1B3, O2B1, O3A1, O4A1
MonosaccharideGLUT1, GLUT2, GLUT3, GLUT4, GLUT5, GLUT6, GLUT8, GLUT9
OtherAmino acid (CD98) - Fatty acid (CD36) - Ion channels - Ion pumps - Mitochondrial membrane transport protein - Neurotransmitter transport proteins - Nuclear (Importin, Karyopherin)

Acknowledgement and Attribution Regarding Sources of Content

Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .

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