Solute carrier family 30 member 10 explained

Solute carrier family 30 member 10 is a protein that in humans is encoded by the SLC30A10 gene.^[1]

Function

This gene is highly expressed in the liver and is inducible by manganese. Its protein product appears to be critical in maintaining manganese levels, and has higher specificity for manganese than zinc. Loss of function mutations appear to result in a pleomorphic phenotype, including dystonia and adult-onset parkinsonism. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Mar 2012].

Further reading

• Seve M, Chimienti F, Devergnas S, Favier A . In silico identification and expression of SLC30 family genes: an expressed sequence tag data mining strategy for the characterization of zinc transporters' tissue expression . BMC Genomics . 5 . 1 . 32 . 2004 . 15154973 . 428573 . 10.1186/1471-2164-5-32 . free .
• Wang L, McDonnell SK, Hebbring SJ, Cunningham JM, St Sauver J, Cerhan JR, Isaya G, Schaid DJ, Thibodeau SN . Polymorphisms in mitochondrial genes and prostate cancer risk . Cancer Epidemiol. Biomarkers Prev. . 17 . 12 . 3558–66 . 2008 . 19064571 . 2750891 . 10.1158/1055-9965.EPI-08-0434 .
• Quadri M, Federico A, Zhao T, Breedveld GJ, Battisti C, Delnooz C, Severijnen LA, Di Toro Mammarella L, Mignarri A, Monti L, Sanna A, Lu P, Punzo F, Cossu G, Willemsen R, Rasi F, Oostra BA, van de Warrenburg BP, Bonifati V . Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease . Am. J. Hum. Genet. . 90 . 3 . 467–77 . 2012 . 22341971 . 3309204 . 10.1016/j.ajhg.2012.01.017 .
• Tuschl K, Clayton PT, Gospe SM, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Chong WK, Mills PB . Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man . Am. J. Hum. Genet. . 90 . 3 . 457–66 . 2012 . 22341972 . 3309187 . 10.1016/j.ajhg.2012.01.018 .
• Bosomworth HJ, Thornton JK, Coneyworth LJ, Ford D, Valentine RA . Efflux function, tissue-specific expression and intracellular trafficking of the Zn transporter ZnT10 indicate roles in adult Zn homeostasis . Metallomics . 4 . 8 . 771–9 . 2012 . 22706290 . 10.1039/c2mt20088k . free .
• DeWitt MR, Chen P, Aschner M . Manganese efflux in Parkinsonism: insights from newly characterized SLC30A10 mutations . Biochem. Biophys. Res. Commun. . 432 . 1 . 1–4 . 2013 . 23357421 . 3594538 . 10.1016/j.bbrc.2013.01.058 .
• Ribeiro RT, dos Santos-Neto D, Braga-Neto P, Barsottini OG . Inherited manganism . Clin Neurol Neurosurg . 115 . 8 . 1536–8 . 2013 . 23369405 . 10.1016/j.clineuro.2012.12.032 . 5775675 .
• Bosomworth HJ, Adlard PA, Ford D, Valentine RA . Altered expression of ZnT10 in Alzheimer's disease brain . PLOS ONE . 8 . 5 . e65475 . 2013 . 23741496 . 3669266 . 10.1371/journal.pone.0065475 . 2013PLoSO...865475B . free .
• Fujishiro H, Yoshida M, Nakano Y, Himeno S . Interleukin-6 enhances manganese accumulation in SH-SY5Y cells: implications of the up-regulation of ZIP14 and the down-regulation of ZnT10 . Metallomics . 6 . 4 . 944–9 . 2014 . 24576911 . 10.1039/c3mt00362k .

Notes and References

1. Web site: Entrez Gene: Solute carrier family 30 member 10. 2017-11-03.