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Slc17a5

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Slc17a5

Solute carrier family 17 (acidic sugar transporter), member 5
Identifiers
Symbols  ; AST; ISSD; NSD; SD; SIALIN; SIASD; SLD
External IDs GeneCards:
Gene ontology
Cellular component






Biological process





Sources: Amigo / QuickGO
]]
RNA expression pattern
Orthologs
Species Human Mouse
Ensembl
UniProt
RefSeq (mRNA)
RefSeq (protein)
PubMed search

Solute carrier family 17 (anion/sugar transporter), member 5, also known as SLC17A5 or sialin, is a protein which in humans is encoded by the SLC17A5 gene.[1][2][3]

Contents

  • Clinical significance 1
  • See also 2
  • References 3
  • Further reading 4

Clinical significance

A deficiency of this protein causes Salla disease.[3][4]

The gene for HP59 contains, entirely within its coding region, the Sialin Gene SLC17A5. Member 5, also known as SLC17A5 or sialin is a lysosomal membrane sialic acid transport protein which in humans is encoded by the SLC17A5 gene on Chromosome 6[5][6][7]

See also

References

  1. ^ "Entrez Gene: SLC17A5 solute carrier family 17 (anion/sugar transporter), member 5". 
  2. ^ Haataja L, Schleutker J, Laine AP, Renlund M, Savontaus ML, Dib C, Weissenbach J, Peltonen L, Aula P (June 1994). "The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6". Am. J. Hum. Genet. 54 (6): 1042–9.  
  3. ^ a b Verheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini GM (December 1999). "A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases". Nat. Genet. 23 (4): 462–5.  
  4. ^ Mitchell, Richard Sheppard; Kumar, Vinay; Robbins, Stanley L.; Abbas, Abul K.; Fausto, Nelson (2007). "Table 7-6". Robbins basic pathology (8th ed.). Saunders/Elsevier.  
  5. ^ http://www.ncbi.nlm.nih.gov/nuccore/224514687?report=graph&from=12483827&to=12483911
  6. ^ [3]"Entrez Gene: SLC17A5 solute carrier family 17 (anion/sugar transporter), member 5"
  7. ^ Haataja, L; Schleutker, J; Laine, AP; Renlund, M; Savontaus, ML; Dib, C; Weissenbach, J; Peltonen, L; Aula, P (1994). "The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6". American Journal of Human Genetics 54 (6): 1042–9.  

Further reading

  • Lemyre E; Russo P; Melançon SB et al. (1999). "Clinical spectrum of infantile free sialic acid storage disease". Am. J. Med. Genet. 82 (5): 385–91.  
  • Winchester BG (2001). "Lysosomal membrane proteins.". Eur. J. Paediatr. Neurol. 5 Suppl A: 11–9.  
  • Mancini GM, Beerens CE, Aula PP, Verheijen FW (1991). "Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.". J. Clin. Invest. 87 (4): 1329–35.  
  • Cameron PD, Dubowitz V, Besley GT, Fensom AH (1990). "Sialic acid storage disease.". Arch. Dis. Child. 65 (3): 314–5.  
  • Tondeur M; Libert J; Vamos E et al. (1983). "Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings". Eur. J. Pediatr. 139 (2): 142–7.  
  • Schleutker J; Laine AP; Haataja L et al. (1995). "Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15". Genomics 27 (2): 286–92.  
  • Berra B; Gornati R; Rapelli S et al. (1995). "Infantile sialic acid storage disease: biochemical studies". Am. J. Med. Genet. 58 (1): 24–31.  
  • Haataja L; Schleutker J; Laine AP et al. (1994). "The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6". Am. J. Hum. Genet. 54 (6): 1042–9.  
  • Verheijen FW; Verbeek E; Aula N et al. (1999). "A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases". Nat. Genet. 23 (4): 462–5.  
  • Aula N; Salomäki P; Timonen R et al. (2000). "The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation". Am. J. Hum. Genet. 67 (4): 832–40.  
  • Fu C; Bardhan S; Cetateanu ND et al. (2002). "Identification of a novel membrane protein, HP59, with therapeutic potential as a target of tumor angiogenesis". Clin. Cancer Res. 7 (12): 4182–94.  
  • Biancheri R; Verbeek E; Rossi A et al. (2003). "An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease". Clin. Genet. 61 (6): 443–7.  
  • Aula N, Jalanko A, Aula P, Peltonen L (2003). "Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin". Mol. Genet. Metab. 77 (1–2): 99–107.  
  • 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.  
  • Martin RA; Slaugh R; Natowicz M et al. (2004). "Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs". Am. J. Med. Genet. A 120 (1): 23–7.  
  • Ota T; Suzuki Y; Nishikawa T et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5.  
  • Aula N, Kopra O, Jalanko A, Peltonen L (2004). "Sialin expression in the CNS implicates extralysosomal function in neurons.". Neurobiol. Dis. 15 (2): 251–61.  
  • Landau D; Cohen D; Shalev H et al. (2005). "A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred". Mol. Genet. Metab. 82 (2): 167–72.  

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