solute carrier family 12 member 6
Última atualização 3 Apr 2025
Atende aos diretrizes editoriais
- BaixarBaixar
- Compartilhar
- Language
- Discussão
- Versão em Áudio
- Adicionar às fontes preferidas no Google
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
Other names
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
Related patient information and medicines
Patient information leaflet
Distúrbios de armazenamento de glicogênio
Glucose is stored in your muscles and liver as a substance called glycogen. What are glycogen storage dis... Distúrbios de armazenamento de glicogênio são a group of inherited diseases that result from a lack of, or anormalidades functioning of, one of the proteins (enzymes) involved in the conversion of glicose to glycogen or the breakdown of glycogen back into.
Patient information leaflet
Fibrose cística
The handling of sodium and chloride may only be mi... What causes cystic fibrosis. Cystic fibrosis is a genetic disorder. A genetic disorder is one that can be passed on from your parents through your genes. If you have cystic fibrosis, one of your genes does not work properly. If you inherit only one cystic fibrosis gene, you are called a.
Patient information leaflet
Planejando engravidar
The aim is to plan ahead to. Women on regular medication, or who have a long-term medical condition, may need to seek medical advice to discuss any changes which may need to be made. This is ideally done before pregnancy. There is a summary checklist at the end of the leaflet. Women who are already pregnant may find Diet and lifestyle during.
Patient information leaflet
Hemocromatose
Haemochromatosis is an inherited (genetic) disorder which causes the body to absorb too much iron from the diet. This excess iron causes damage to organs in which it builds up. Because of the risk of developing a serious complication such as cirrhosis, treatment to remove iron buildup from the body is very im... Causes of haemochromatosis.
Patient information leaflet
Esferocitose hereditária
Hereditary spherocytosis (HS) é an inherited condition of red blood cells. The disease can be mild and go unrecognised in some people. In others there may be severe anaemia requiring regular blood transfusions. Some people with hereditary spherocytosis may be offered surgery to remove their spleen. This usually helps the condition, but increases.
Patient information leaflet
Doença renal policística
There are different types of polycystic kidney disease: Doença renal policística autossômica dominante (DRPAD) This is the most common type. This is an hereditary condition caused by a faulty gene which is inherited from one parent. Although people with PKD often develop kidney failure (end-stage kidney disease) between ages 55 to 65 years, some.
Leitura adicional e referências
- 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.
Participe da conversa
Compartilhe seus pensamentos ou experiências com outros em nosso comunidades de pacientes.
Pergunte, compartilhe, conecte-se.
Navegue por discussões, faça perguntas e compartilhe experiências em centenas de tópicos de saúde.
Inscreva-se no boletim informativo do Patient
Sua dose semanal de conselhos de saúde claros e confiáveis - escritos para ajudá-lo a se sentir informado, confiante e no controle.
Ao se inscrever, você aceita nossos Política de Privacidade. Você pode cancelar a inscrição a qualquer momento. Nunca vendemos seus dados.