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Solute carrier family 17 (anion/sugar transporter), member 5
Identifiers
Symbols SLC17A5; SD; AST; FLJ22227; FLJ23268; ISSD; NSD; SIALIN; SIASD; SLD
External IDs OMIM604322 MGI1924105 HomoloGene56571 GeneCards: SLC17A5 Gene
RNA expression pattern
PBB GE SLC17A5 221041 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 26503 235504
Ensembl ENSG00000119899 ENSMUSG00000049624
UniProt Q9NRA2 Q8BN82
RefSeq (mRNA) NM_012434 NM_172773
RefSeq (protein) NP_036566 NP_766361
Location (UCSC) Chr 6:
74.36 - 74.42 Mb
Chr 9:
78.32 - 78.37 Mb
PubMed search [1] [2]

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

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

See also

References

  1. ^ "Entrez Gene: SLC17A5 solute carrier family 17 (anion/sugar transporter), member 5". http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26503.  
  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. PMID 8198127.  
  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. doi:10.1038/70585. PMID 10581036.  
  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. ISBN 1-4160-2973-7.  

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. doi:10.1002/(SICI)1096-8628(19990219)82:5<385::AID-AJMG6>3.0.CO;2-3. PMID 10069709.  
  • Winchester BG (2001). "Lysosomal membrane proteins.". Eur. J. Paediatr. Neurol. 5 Suppl A: 11–9. doi:10.1053/ejpn.2000.0428. PMID 11588980.  
  • 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. doi:10.1172/JCI115136. PMID 2010546.  
  • Cameron PD, Dubowitz V, Besley GT, Fensom AH (1990). "Sialic acid storage disease.". Arch. Dis. Child. 65 (3): 314–5. doi:10.1136/adc.65.3.314. PMID 2334213.  
  • 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. doi:10.1007/BF00441499. PMID 7151835.  
  • 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. doi:10.1006/geno.1995.1044. PMID 7557994.  
  • Berra B, Gornati R, Rapelli S, et al. (1995). "Infantile sialic acid storage disease: biochemical studies.". Am. J. Med. Genet. 58 (1): 24–31. doi:10.1002/ajmg.1320580107. PMID 7573152.  
  • 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. PMID 8198127.  
  • 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. doi:10.1038/70585. PMID 10581036.  
  • 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. doi:10.1086/303077. PMID 10947946.  
  • 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. PMID 11751519.  
  • 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. doi:10.1034/j.1399-0004.2002.610608.x. PMID 12121352.  
  • 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. doi:10.1016/S1096-7192(02)00124-5. PMID 12359136.  
  • 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.  
  • 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. doi:10.1002/ajmg.a.10246. PMID 12794687.  
  • 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. doi:10.1038/ng1285. PMID 14702039.  
  • 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. doi:10.1016/j.nbd.2003.11.017. PMID 15006695.  
  • 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. doi:10.1016/j.ymgme.2004.03.005. PMID 15172005.  

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

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