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SLC17A5

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Identifiers
SymbolsSLC17A5 ; AST; ISSD; NSD; SD; SIALIN; SIASD; SLD
External IDsOMIM604322 MGI1924105 HomoloGene56571 IUPHAR: 1006 GeneCards: SLC17A5 Gene
RNA expression pattern
File:PBB GE SLC17A5 221041 s at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez26503235504
EnsemblENSG00000119899ENSMUSG00000049624
UniProtQ9NRA2Q8BN82
RefSeq (mRNA)NM_012434NM_001276452
RefSeq (protein)NP_036566NP_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

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 et al. (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 et al. (December 1999). "A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases". Nat. Genet. 23 (4): 462–5. PMID 10581036. doi:10.1038/70585. 
  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 et al. (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

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


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