Biology:SLC17A5
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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] 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[5][6][7]
See also
References
- ↑ "Entrez Gene: SLC17A5 solute carrier family 17 (anion/sugar transporter), member 5". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26503.
- ↑ "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. June 1994. PMID 8198127.
- ↑ 3.0 3.1 "A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases". Nat. Genet. 23 (4): 462–5. December 1999. doi:10.1038/70585. PMID 10581036.
- ↑ 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.
- ↑ https://www.ncbi.nlm.nih.gov/nuccore/224514687?report=graph&from=12483827&to=12483911
- ↑ [1]"Entrez Gene: SLC17A5 solute carrier family 17 (anion/sugar transporter), member 5"
- ↑ "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. 1994. PMID 8198127.
Further reading
- "Clinical spectrum of infantile free sialic acid storage disease". Am. J. Med. Genet. 82 (5): 385–91. 1999. doi:10.1002/(SICI)1096-8628(19990219)82:5<385::AID-AJMG6>3.0.CO;2-3. PMID 10069709.
- "Lysosomal membrane proteins.". Eur. J. Paediatr. Neurol. 5 Suppl A: 11–9. 2001. doi:10.1053/ejpn.2000.0428. PMID 11588980.
- "Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides.". J. Clin. Invest. 87 (4): 1329–35. 1991. doi:10.1172/JCI115136. PMID 2010546.
- "Sialic acid storage disease.". Arch. Dis. Child. 65 (3): 314–5. 1990. doi:10.1136/adc.65.3.314. PMID 2334213.
- "Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings". Eur. J. Pediatr. 139 (2): 142–7. 1983. doi:10.1007/BF00441499. PMID 7151835.
- "Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15". Genomics 27 (2): 286–92. 1995. doi:10.1006/geno.1995.1044. PMID 7557994.
- "Infantile sialic acid storage disease: biochemical studies". Am. J. Med. Genet. 58 (1): 24–31. 1995. doi:10.1002/ajmg.1320580107. PMID 7573152.
- "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. 1994. PMID 8198127.
- "A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases". Nat. Genet. 23 (4): 462–5. 1999. doi:10.1038/70585. PMID 10581036.
- "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. 2000. doi:10.1086/303077. PMID 10947946.
- "Identification of a novel membrane protein, HP59, with therapeutic potential as a target of tumor angiogenesis". Clin. Cancer Res. 7 (12): 4182–94. 2002. PMID 11751519.
- "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. 2003. doi:10.1034/j.1399-0004.2002.610608.x. PMID 12121352.
- "Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin". Mol. Genet. Metab. 77 (1–2): 99–107. 2003. doi:10.1016/S1096-7192(02)00124-5. PMID 12359136.
- "Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs". Am. J. Med. Genet. A 120 (1): 23–7. 2004. doi:10.1002/ajmg.a.10246. PMID 12794687.
- "Sialin expression in the CNS implicates extralysosomal function in neurons.". Neurobiol. Dis. 15 (2): 251–61. 2004. doi:10.1016/j.nbd.2003.11.017. PMID 15006695.
- "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. 2005. doi:10.1016/j.ymgme.2004.03.005. PMID 15172005.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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