solute carrier family 12 member 6
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The SLC12A6 gene provides instructions for making a protein called KCC3, a K-Cl co-transporter present in several organs. 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 (co-transported), so that the charges inside and outside the cell membrane are unchanged (electroneutral).
Normal function
The SLC12A6 gene provides instructions for making a protein called KCC3, a K-Cl co-transporter present in several organs. 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 (co-transported), so that the charges inside and outside the cell membrane are unchanged (electroneutral).
Electroneutral co-transport of ions across cell membranes is involved in many functions of the body. While the specific function of the KCC3 protein is unknown, it seems to be critical for the development and maintenance of nerve tissue and axons, which are specialized extensions of neurons that transmit nerve impulses throughout the nervous system. KCC3 may be involved in regulating the amounts of potassium, chlorine, or water in cells and intercellular spaces. The KCC3 protein may also help regulate the activity of other proteins that are sensitive to ion concentrations.
Conditions referring to this gene or chromosome
Altri nomi
ACCPN
DKFZP434D2135
KCC3
KCC3A
KCC3B
potassium chloride cotransporter 3
potassium chloride cotransporter KCC3a-S3
S12A6_HUMAN
solute carrier family 12 (potassium/chloride transporter), member 6
solute carrier family 12 (potassium/chloride transporters), member 6
solute carrier family 12, member 6
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Ulteriori letture e riferimenti
- solute carrier family 12 member 6; MedlinePlus, National Library of Medicine.
- Ando M, Higuchi Y, Yuan J, Yoshimura A, Taniguchi T, Takei J, Takeuchi M, Hiramatsu Y, Shimizu F, Kubota M, Takeshima A, Ueda T, Koh K, Nagaoka U, Tokashiki T, Sawai S, Sakiyama Y, Hashiguchi A, Sato R, Kanda T, Okamoto Y, Takashima H. Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease. Ann Clin Transl Neurol. 2022 Jul;9(7):902-911. doi: 10.1002/acn3.51603. Epub 2022 Jun 22.
- Dupre 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. doi: 10.1002/ana.77777.
- Gauvreau C, Brisson JD, Dupre N. Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum. 2006 Feb 2 [updated 2020 Sep 17]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from 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. doi: 10.1007/s00424-003-1066-3. Epub 2003 May 9.
- Howard HC, Mount DB, Rochefort D, Byun N, Dupre N, Lu J, Fan X, Song L, Riviere JB, Prevost 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. doi: 10.1038/ng1002. Epub 2002 Oct 7.
- Kahle KT, Flores B, Bharucha-Goebel D, Zhang J, Donkervoort S, Hegde M, Hussain G, Duran D, Liang B, Sun D, Bonnemann CG, Delpire E. Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter. Sci Signal. 2016 Aug 2;9(439):ra77. doi: 10.1126/scisignal.aae0546.
- Meyer J, Johannssen K, Freitag CM, Schraut K, Teuber I, Hahner A, Mainhardt C, Mossner 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. doi: 10.1017/S1461145705005821. Epub 2005 Aug 5.
- 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):C1210-9. doi: 10.1152/ajpcell.1999.277.6.C1210.
- Salin-Cantegrel A, Riviere JB, Dupre N, Charron FM, Shekarabi M, Karemera 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. doi: 10.1212/01.wnl.0000291779.35643.15.
- 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. doi: 10.1212/01.wnl.0000204181.31175.8b.
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