Sialin Explained

Sialin, also known as H(+)/nitrate cotransporter and H(+)/sialic acid cotransporter, 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

• Solute carrier family

Further reading

• Lemyre E, Russo P, Melançon SB, Gagné R, Potier M, Lambert M . Clinical spectrum of infantile free sialic acid storage disease . Am. J. Med. Genet. . 82 . 5 . 385–91 . 1999 . 10069709 . 10.1002/(SICI)1096-8628(19990219)82:5<385::AID-AJMG6>3.0.CO;2-3 . 3 .
• Winchester BG . Lysosomal membrane proteins. . Eur. J. Paediatr. Neurol. . 5 Suppl A . 11–9 . 2001 . 11588980 . 10.1053/ejpn.2000.0428 .
• Mancini GM, Beerens CE, Aula PP, Verheijen FW . Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides. . J. Clin. Invest. . 87 . 4 . 1329–35 . 1991 . 2010546 . 295166 . 10.1172/JCI115136 .
• Cameron PD, Dubowitz V, Besley GT, Fensom AH . Sialic acid storage disease. . Arch. Dis. Child. . 65 . 3 . 314–5 . 1990 . 2334213 . 1792249 . 10.1136/adc.65.3.314 .
• Tondeur M, Libert J, Vamos E, Van Hoof F, Thomas GH, Strecker G . Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings . Eur. J. Pediatr. . 139 . 2 . 142–7 . 1983 . 7151835 . 10.1007/BF00441499 . 32361537 . 3 .
• Schleutker J, Laine AP, Haataja L, Renlund M, Weissenbach J, Aula P, Peltonen L . Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15 . Genomics . 27 . 2 . 286–92 . 1995 . 7557994 . 10.1006/geno.1995.1044 . 3 .
• Berra B, Gornati R, Rapelli S, Gatti R, Mancini GM, Ciana G, Bembi B . Infantile sialic acid storage disease: biochemical studies . Am. J. Med. Genet. . 58 . 1 . 24–31 . 1995 . 7573152 . 10.1002/ajmg.1320580107 . 3 .
• Haataja L, Schleutker J, Laine AP, Renlund M, Savontaus ML, Dib C, Weissenbach J, Peltonen L, Aula P . 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 . 8198127 . 1918202 . 3 .
• Verheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini GM . A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases . Nat. Genet. . 23 . 4 . 462–5 . 1999 . 10581036 . 10.1038/70585 . 5709302 . 3 .
• Aula N, Salomäki P, Timonen R, Verheijen F, Mancini G, Månsson JE, Aula P, Peltonen L . 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 . 10947946 . 1287888 . 10.1086/303077 . 3 .
• Fu C, Bardhan S, Cetateanu ND, Wamil BD, Wang Y, Yan HP, Shi E, Carter C, Venkov C, Yakes FM, Page DL, Lloyd RS, Mernaugh RL, Hellerqvist CG . Identification of a novel membrane protein, HP59, with therapeutic potential as a target of tumor angiogenesis . Clin. Cancer Res. . 7 . 12 . 4182–94 . 2002 . 11751519 . 3 .
• Biancheri R, Verbeek E, Rossi A, Gaggero R, Roccatagliata L, Gatti R, van Diggelen O, Verheijen FW, Mancini GM . 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 . 12121352 . 10.1034/j.1399-0004.2002.610608.x . 38913583 . 3 .
• Aula N, Jalanko A, Aula P, Peltonen L . Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin . Mol. Genet. Metab. . 77 . 1–2 . 99–107 . 2003 . 12359136 . 10.1016/S1096-7192(02)00124-5 .
• Martin RA, Slaugh R, Natowicz M, Pearlman K, Orvisky E, Krasnewich D, Kleta R, Huizing M, Gahl WA . Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs . Am. J. Med. Genet. A . 120 . 1 . 23–7 . 2004 . 12794687 . 10.1002/ajmg.a.10246 . 33400818 . 3 .
• Aula N, Kopra O, Jalanko A, Peltonen L . Sialin expression in the CNS implicates extralysosomal function in neurons. . Neurobiol. Dis. . 15 . 2 . 251–61 . 2004 . 15006695 . 10.1016/j.nbd.2003.11.017 . 42507472 .
• Landau D, Cohen D, Shalev H, Pinsk V, Yerushalmi B, Zeigler M, Birk OS . 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 . 15172005 . 10.1016/j.ymgme.2004.03.005 . 3 .

Notes and References

1. Web site: 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, Weissenbach J, Peltonen L, Aula P . 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 . 8198127 . 1918202 .
3. Verheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini GM . A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases . Nat. Genet. . 23 . 4 . 462–5 . December 1999 . 10581036 . 10.1038/70585 . 5709302 .
4. Book: Mitchell, Richard Sheppard . Kumar, Vinay . Robbins, Stanley L. . Abbas, Abul K. . Fausto, Nelson . Robbins basic pathology . 8th . Saunders/Elsevier . 2007 . Table 7-6 . 978-1-4160-2973-1 .
5. Web site: Homo sapiens chromosome 6 genomic contig, GRCh37.p13 Primary Assembly. 13 August 2013.
6. https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26503
7. Haataja L, Schleutker J, Laine AP, Renlund M, Savontaus ML, Dib C, Weissenbach J, Peltonen L, Aula P . 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 . 8198127 . 1918202 .