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Normal Function
The SLC30A10 gene provides instructions for making a protein that transports the element manganese across cell membranes. Manganese is important for many cellular functions, but large amounts are toxic, particularly to brain and liver cells. Excess amounts of the element are normally removed from the body through bile, which is a fluid produced in the liver that is important for digestion and the removal of waste materials.
The SLC30A10 protein is found in the membranes surrounding liver cells and nerve cells in the brain, as well as in the membranes of structures within these cells. It protects cells from high concentrations of manganese by removing manganese when levels become elevated. In the liver, the SLC30A10 protein transports manganese out of cells into bile so that the element can be removed from the body.
Health Conditions Related to Genetic Changes
Hypermanganesemia with dystonia
More than a dozen mutations in the SLC30A10 gene have been identified in people with hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC, also known as hypermanganesemia with dystonia 1). This inherited disorder is characterized by high levels of manganese (hypermanganesemia) in the blood, brain, and liver. The disorder causes movement problems, such as involuntary tensing of the muscles (dystonia); an increased number of red blood cells (polycythemia); and liver abnormalities, including irreversible liver disease (cirrhosis).
Mutations in the SLC30A10 gene impair the transport of manganese out of the cell, allowing the element to build up in brain and liver cells. Manganese accumulates in a region of the brain that helps control movement, damaging nerve cells and leading to the movement problems characteristic of HMDPC. Damage caused by a buildup of manganese in the liver causes the characteristic liver problems. High levels of manganese help increase the production of red blood cells, so excess amounts of this element may underlie polycythemia.
More About This Health ConditionOther Names for This Gene
- DKFZp547M236
- HMDPC
- solute carrier family 30, member 10
- zinc transporter 10
- ZnT-10
- ZNT10
- ZNT10_HUMAN
- ZRC1
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- 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. 2012 Aug;4(8):771-9. doi: 10.1039/c2mt20088k. Epub 2012 Jun 18. Citation on PubMed
- Leyva-Illades D, Chen P, Zogzas CE, Hutchens S, Mercado JM, Swaim CD, Morrisett RA, Bowman AB, Aschner M, Mukhopadhyay S. SLC30A10 is a cell surface-localized manganese efflux transporter, and parkinsonism-causing mutations block its intracellular trafficking and efflux activity. J Neurosci. 2014 Oct 15;34(42):14079-95. doi: 10.1523/JNEUROSCI.2329-14.2014. Citation on PubMed or Free article on PubMed Central
- Mukhopadhyay S. Familial manganese-induced neurotoxicity due to mutations in SLC30A10 or SLC39A14. Neurotoxicology. 2018 Jan;64:278-283. doi: 10.1016/j.neuro.2017.07.030. Epub 2017 Aug 5. Citation on PubMed
- 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. 2012 Mar 9;90(3):467-77. doi: 10.1016/j.ajhg.2012.01.017. Epub 2012 Feb 16. Citation on PubMed or Free article on PubMed Central
- Tuschl K, Clayton PT, Gospe SM Jr, 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. 2012 Mar 9;90(3):457-66. doi: 10.1016/j.ajhg.2012.01.018. Epub 2012 Feb 16. Citation on PubMed or Free article on PubMed Central
- Tuschl K, Clayton PT, Gospe SM Jr, Mills PB. Hypermanganesemia with Dystonia 1. 2012 Aug 30 [updated 2021 Dec 23]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK100241/ Citation on PubMed
- Tuschl K, Mills PB, Parsons H, Malone M, Fowler D, Bitner-Glindzicz M, Clayton PT. Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorder. J Inherit Metab Dis. 2008 Apr;31(2):151-63. doi: 10.1007/s10545-008-0813-1. Epub 2008 Apr 4. Citation on PubMed
- Zogzas CE, Aschner M, Mukhopadhyay S. Structural Elements in the Transmembrane and Cytoplasmic Domains of the Metal Transporter SLC30A10 Are Required for Its Manganese Efflux Activity. J Biol Chem. 2016 Jul 29;291(31):15940-57. doi: 10.1074/jbc.M116.726935. Epub 2016 Jun 15. Citation on PubMed or Free article on PubMed Central
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