Solute carrier family 30 member 10
Solute carrier family 30 member 10 is a protein that in humans is encoded by the SLC30A10 gene. [5]
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].
References
- GRCh38: Ensembl release 89: ENSG00000196660 - Ensembl, May 2017
- GRCm38: Ensembl release 89: ENSMUSG00000026614 - Ensembl, May 2017
- "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- "Entrez Gene: Solute carrier family 30 member 10". Retrieved 2017-11-03.
Further reading
- Seve M, Chimienti F, Devergnas S, Favier A (2004). "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. doi:10.1186/1471-2164-5-32. PMC 428573. PMID 15154973.
- Wang L, McDonnell SK, Hebbring SJ, Cunningham JM, St Sauver J, Cerhan JR, Isaya G, Schaid DJ, Thibodeau SN (2008). "Polymorphisms in mitochondrial genes and prostate cancer risk". Cancer Epidemiol. Biomarkers Prev. 17 (12): 3558–66. doi:10.1158/1055-9965.EPI-08-0434. PMC 2750891. PMID 19064571.
- 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 (2012). "Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease". Am. J. Hum. Genet. 90 (3): 467–77. doi:10.1016/j.ajhg.2012.01.017. PMC 3309204. PMID 22341971.
- 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 (2012). "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. doi:10.1016/j.ajhg.2012.01.018. PMC 3309187. PMID 22341972.
- Bosomworth HJ, Thornton JK, Coneyworth LJ, Ford D, Valentine RA (2012). "Efflux function, tissue-specific expression and intracellular trafficking of the Zn transporter ZnT10 indicate roles in adult Zn homeostasis". Metallomics. 4 (8): 771–9. doi:10.1039/c2mt20088k. PMID 22706290.
- DeWitt MR, Chen P, Aschner M (2013). "Manganese efflux in Parkinsonism: insights from newly characterized SLC30A10 mutations". Biochem. Biophys. Res. Commun. 432 (1): 1–4. doi:10.1016/j.bbrc.2013.01.058. PMC 3594538. PMID 23357421.
- Ribeiro RT, dos Santos-Neto D, Braga-Neto P, Barsottini OG (2013). "Inherited manganism". Clin Neurol Neurosurg. 115 (8): 1536–8. doi:10.1016/j.clineuro.2012.12.032. PMID 23369405. S2CID 5775675.
- Bosomworth HJ, Adlard PA, Ford D, Valentine RA (2013). "Altered expression of ZnT10 in Alzheimer's disease brain". PLOS ONE. 8 (5): e65475. Bibcode:2013PLoSO...865475B. doi:10.1371/journal.pone.0065475. PMC 3669266. PMID 23741496.
- Fujishiro H, Yoshida M, Nakano Y, Himeno S (2014). "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. doi:10.1039/c3mt00362k. PMID 24576911.
. Zeglam A, Abugrara A, Kabuka M. Autosomal-recessive iron deficiency anemia, dystonia and hypermanganesemia caused by new variant mutation of the manganese transporter gene SLC39A14. Acta Neurol Belg. 2019 Sep;119(3):379-384. doi: 10.1007/s13760-018-1024-7. Epub 2018 Sep 19. PMID 30232769.
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