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Genetics Home Reference: your guide to understanding genetic conditions
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SLC30A10

Reviewed October 2012

What is the official name of the SLC30A10 gene?

The official name of this gene is “solute carrier family 30, member 10.”

SLC30A10 is the gene's official symbol. The SLC30A10 gene is also known by other names, listed below.

What is the normal function of the SLC30A10 gene?

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. 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. The protein protects these cells from high concentrations of manganese by removing manganese when levels become elevated.

Does the SLC30A10 gene share characteristics with other genes?

The SLC30A10 gene belongs to a family of genes called SLC (solute carriers).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the SLC30A10 gene related to health conditions?

hypermanganesemia with dystonia, polycythemia, and cirrhosis - caused by mutations in the SLC30A10 gene

Several mutations in the SLC30A10 gene have been identified in people with hypermanganesemia with dystonia, polycythemia, and cirrhosis (HMDPC). This inherited disorder is characterized by high levels of manganese in the blood (hypermanganesemia). 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 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 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 also result in polycythemia.

Where is the SLC30A10 gene located?

Cytogenetic Location: 1q41

Molecular Location on chromosome 1: base pairs 219,913,918 to 219,958,909

The SLC30A10 gene is located on the long (q) arm of chromosome 1 at position 41.

The SLC30A10 gene is located on the long (q) arm of chromosome 1 at position 41.

More precisely, the SLC30A10 gene is located from base pair 219,913,918 to base pair 219,958,909 on chromosome 1.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about SLC30A10?

You and your healthcare professional may find the following resources about SLC30A10 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SLC30A10 gene or gene products?

  • DKFZp547M236
  • HMDPC
  • zinc transporter 10
  • ZNT10
  • ZnT-10
  • ZNT10_HUMAN
  • ZRC1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding SLC30A10?

carrier ; cell ; cirrhosis ; dystonia ; gene ; inherited ; involuntary ; protein ; solute ; toxic

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

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. (http://www.ncbi.nlm.nih.gov/pubmed/22706290?dopt=Abstract)
  • Gene Review: Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease (http://www.ncbi.nlm.nih.gov/books/NBK100241)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/55532)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/22341971?dopt=Abstract)
  • OMIM: SOLUTE CARRIER FAMILY 30 (ZINC TRANSPORTER), MEMBER 10 (http://omim.org/entry/611146)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/22341972?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/18392750?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: October 2012
Published: November 24, 2014