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 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. 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 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[edit]

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