SLC17A5

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SLC17A5
Identifiers
AliasesSLC17A5, AST, ISSD, NSD, SD, SIALIN, SIASD, SLD, solute carrier family 17 member 5
External IDsMGI: 1924105 HomoloGene: 56571 GeneCards: SLC17A5
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for SLC17A5
Genomic location for SLC17A5
Band6q13Start73,593,379 bp[1]
End73,654,155 bp[1]
RNA expression pattern
PBB GE SLC17A5 221041 s at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_012434

NM_001276452
NM_172773

RefSeq (protein)

NP_036566

NP_001263381
NP_766361

Location (UCSC)Chr 6: 73.59 – 73.65 MbChr 9: 78.54 – 78.59 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[5][6][7]

Clinical significance[edit]

A deficiency of this protein causes Salla disease.[7][8] and Infantile Sialic Acid Storage Disease (ISSD).

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[9][10][11]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000119899 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000049624 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ "Entrez Gene: SLC17A5 solute carrier family 17 (anion/sugar transporter), member 5".
  6. ^ 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.
  7. ^ 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.
  8. ^ 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.
  9. ^ https://www.ncbi.nlm.nih.gov/nuccore/224514687?report=graph&from=12483827&to=12483911
  10. ^ [1]"Entrez Gene: SLC17A5 solute carrier family 17 (anion/sugar transporter), member 5"
  11. ^ 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.