Reviewed June 2008
What is the official name of the SLC12A6 gene?
The official name of this gene is “solute carrier family 12 (potassium/chloride transporter), member 6.”
SLC12A6 is the gene's official symbol. The SLC12A6 gene is also known by other names, listed below.
What is the normal function of the SLC12A6 gene?
The SLC12A6 gene provides instructions for making a protein called a K-Cl cotransporter. This protein is involved in moving charged atoms (ions) of potassium (K) and chlorine (Cl) across the cell membrane. The positively charged potassium ions and negatively charged chlorine ions are moved together (cotransported), so that the charges inside and outside the cell membrane are unchanged (electroneutral).
Electroneutral cotransport of ions across cell membranes is involved in many functions of the body. While the specific function of the K-Cl cotransporter produced from the SLC12A6 gene is unknown, it seems to be critical for the development and maintenance of nerve tissue. It may be involved in regulating the amounts of potassium, chlorine, or water in cells and intercellular spaces. The K-Cl cotransporter protein may also help regulate the activity of other proteins that are sensitive to ion concentrations.
Does the SLC12A6 gene share characteristics with other genes?
The SLC12A6 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 SLC12A6 gene related to health conditions?
- Andermann syndrome - caused by mutations in the SLC12A6 gene
At least six SLC12A6 gene mutations have been identified in people with Andermann syndrome. Almost all affected individuals of French-Canadian descent have the same mutation in both copies of the SLC12A6 gene, in which the DNA building block (nucleotide) guanine is deleted at position 2436 (written as 2436delG). This mutation is common in the populations of the Saguenay-Lac-St.-Jean and Charlevoix regions of northeastern Quebec. Most SLC12A6 gene mutations that cause Andermann syndrome result in a K-Cl cotransporter protein that is shortened and nonfunctional.
The lack of functional protein produced from the SLC12A6 gene is believed to interfere with the development of the corpus callosum and maintenance of the nerves that transmit signals needed for movement and sensation, resulting in the signs and symptoms of Andermann syndrome.
Where is the SLC12A6 gene located?
Cytogenetic Location: 15q13
Molecular Location on chromosome 15: base pairs 34,229,996 to 34,338,064
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/9990))
The SLC12A6 gene is located on the long (q) arm of chromosome 15 at position 13.
More precisely, the SLC12A6 gene is located from base pair 34,229,996 to base pair 34,338,064 on chromosome 15.
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 SLC12A6?
You and your healthcare professional may find the following resources about SLC12A6 helpful.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK1372)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for SLC12A6 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9990%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28SLC12A6%5BTIAB%5D%29%20OR%20%28%28KCC3%5BTIAB%5D%29%20OR%20%28ACCPN%5BTIAB%5D%29%20OR%20%28KCC3A%5BTIAB%5D%29%20OR%20%28KCC3B%5BTIAB%5D%29%20OR%20%28potassium%20chloride%20cotransporter%203%5BTIAB%5D%29%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/604878)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_SLC12A6.html)
- HGNC Gene Family: Solute carriers (http://www.genenames.org/cgi-bin/genefamilies/set/752)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=10914)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/9990)
What other names do people use for the SLC12A6 gene or gene products?
- agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)
- potassium chloride cotransporter 3
- potassium chloride cotransporter KCC3a-S3
- solute carrier family 12, member 6
- solute carrier family 12 (potassium/chloride transporters), member 6
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 SLC12A6?
cell membrane ;
corpus callosum ;
peripheral neuropathy ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Dupré N, Howard HC, Mathieu J, Karpati G, Vanasse M, Bouchard JP, Carpenter S, Rouleau GA. Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. Ann Neurol. 2003 Jul;54(1):9-18. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12838516?dopt=Abstract)
- Gene Review: Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum (http://www.ncbi.nlm.nih.gov/books/NBK1372)
- Hebert SC, Mount DB, Gamba G. Molecular physiology of cation-coupled Cl- cotransport: the SLC12 family. Pflugers Arch. 2004 Feb;447(5):580-93. Epub 2003 May 9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12739168?dopt=Abstract)
- Howard HC, Mount DB, Rochefort D, Byun N, Dupré N, Lu J, Fan X, Song L, Rivière JB, Prévost C, Horst J, Simonati A, Lemcke B, Welch R, England R, Zhan FQ, Mercado A, Siesser WB, George AL Jr, McDonald MP, Bouchard JP, Mathieu J, Delpire E, Rouleau GA. The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nat Genet. 2002 Nov;32(3):384-92. Epub 2002 Oct 7. Erratum in: Nat Genet 2002 Dec;32(4):681. (http://www.ncbi.nlm.nih.gov/pubmed/12368912?dopt=Abstract)
- Meyer J, Johannssen K, Freitag CM, Schraut K, Teuber I, Hahner A, Mainhardt C, Mössner R, Volz HP, Wienker TF, McKeane D, Stephan DA, Rouleau G, Reif A, Lesch KP. Rare variants of the gene encoding the potassium chloride co-transporter 3 are associated with bipolar disorder. Int J Neuropsychopharmacol. 2005 Dec;8(4):495-504. Epub 2005 Aug 5. (http://www.ncbi.nlm.nih.gov/pubmed/16098236?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/9990)
- Race JE, Makhlouf FN, Logue PJ, Wilson FH, Dunham PB, Holtzman EJ. Molecular cloning and functional characterization of KCC3, a new K-Cl cotransporter. Am J Physiol. 1999 Dec;277(6 Pt 1):C1210-9. (http://www.ncbi.nlm.nih.gov/pubmed/10600773?dopt=Abstract)
- Salin-Cantegrel A, Rivière JB, Dupré N, Charron FM, Shekarabi M, Karéméra L, Gaspar C, Horst J, Tekin M, Deda G, Krause A, Lippert MM, Willemsen MA, Jarrar R, Lapointe JY, Rouleau GA. Distal truncation of KCC3 in non-French Canadian HMSN/ACC families. Neurology. 2007 Sep 25;69(13):1350-5. (http://www.ncbi.nlm.nih.gov/pubmed/17893295?dopt=Abstract)
- OMIM: SOLUTE CARRIER FAMILY 12 (SODIUM/CHLORIDE TRANSPORTER), MEMBER 6 (http://omim.org/entry/604878)
- Uyanik G, Elcioglu N, Penzien J, Gross C, Yilmaz Y, Olmez A, Demir E, Wahl D, Scheglmann K, Winner B, Bogdahn U, Topaloglu H, Hehr U, Winkler J. Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome. Neurology. 2006 Apr 11;66(7):1044-8. Erratum in: Neurology. 2006 Oct 24;67(8):1528. (http://www.ncbi.nlm.nih.gov/pubmed/16606917?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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.