SLC17A5

Solute carrier family 17 (anion/sugar transporter), member 5
Identifiers
Symbols	SLC17A5 ; SD; AST; FLJ22227; FLJ23268; ISSD; NSD; SIALIN; SIASD; SLD
External IDs	Template:OMIM5 Template:MGI HomoloGene: 56571
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO
RNA expression pattern
File:PBB GE SLC17A5 221041 s at tn.png
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Solute carrier family 17 (anion/sugar transporter), member 5, also known as SLC17A5, is a human gene.

See also

• Solute carrier family

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. PMID 10069709.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Winchester BG (2001). "Lysosomal membrane proteins". Eur. J. Paediatr. Neurol. 5 Suppl A: 11–9. 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. PMID 2010546.CS1 maint: Multiple names: authors list (link)
• Cameron PD, Dubowitz V, Besley GT, Fensom AH (1990). "Sialic acid storage disease". Arch. Dis. Child. 65 (3): 314–5. PMID 2334213.CS1 maint: Multiple names: authors list (link)
• 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. PMID 7151835.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 10947946.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 12121352.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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. PMID 12359136.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Multiple names: authors list (link)
• 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.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

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