SLC17A5

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Solute carrier family 17 (acidic sugar transporter), member 5
Identifiers
Symbols SLC17A5 ; AST; ISSD; NSD; SD; 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_001276452
RefSeq (protein) NP_036566 NP_001263381
Location (UCSC) Chr 6:
74.3 – 74.36 Mb
Chr 9:
78.54 – 78.59 Mb
PubMed search [2] [3]

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]

Clinical significance[edit]

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[edit]

References[edit]

  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. PMC 1918202. 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. 
  5. ^ http://www.ncbi.nlm.nih.gov/nuccore/224514687?report=graph&from=12483827&to=12483911
  6. ^ [1]"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. PMC 1918202. PMID 8198127. 

Further reading[edit]

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