chloride voltage-gated channel Ka
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L CLCNKA gene belongs to the CLC family of genes, which provide instructions for making chloride channels. These channels, which transport negatively charged chlorine atoms (chloride ions), play a key role in a cell's ability to generate and transmit electrical signals. Some CLC channels regulate the flow of chloride ions across cell membranes, while others transport chloride ions within cells.
Normal function
L CLCNKA gene belongs to the CLC family of genes, which provide instructions for making chloride channels. These channels, which transport negatively charged chlorine atoms (chloride ions), play a key role in a cell's ability to generate and transmit electrical signals. Some CLC channels regulate the flow of chloride ions across cell membranes, while others transport chloride ions within cells.
L CLCNKA gene provides instructions for making a chloride channel called ClC-Ka. These channels are found predominantly in the kidneys. ClC-Ka is one of several proteins that work together to regulate the movement of ions into and out of kidney cells. The transport of chloride ions by ClC-Ka channels is part of the mechanism by which the kidneys reabsorb salt (sodium chloride or NaCl) from the urine back into the bloodstream. The retention of salt affects the body's fluid levels and helps maintain blood pressure.
ClC-Ka channels are also located in the inner ear, where they play a role in normal hearing.
Conditions referring to this gene or chromosome
Altri nomi
chloride channel Ka
chloride channel protein ClC-Ka
chloride channel, kidney, A
chloride channel, voltage-sensitive Ka
ClC-K1
CLCK1
CLCKA_HUMAN
hClC-Ka
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Ulteriori letture e riferimenti
- chloride voltage-gated channel Ka; MedlinePlus, National Library of Medicine.
- Barlassina C, Dal Fiume C, Lanzani C, Manunta P, Guffanti G, Ruello A, Bianchi G, Del Vecchio L, Macciardi F, Cusi D. Common genetic variants and haplotypes in renal CLCNKA gene are associated to salt-sensitive hypertension. Hum Mol Genet. 2007 Jul 1;16(13):1630-8. doi: 10.1093/hmg/ddm112. Epub 2007 May 17.
- Kieferle S, Fong P, Bens M, Vandewalle A, Jentsch TJ. Two highly homologous members of the ClC chloride channel family in both rat and human kidney. Proc Natl Acad Sci U S A. 1994 Jul 19;91(15):6943-7. doi: 10.1073/pnas.91.15.6943.
- Kramer BK, Bergler T, Stoelcker B, Waldegger S. Mechanisms of Disease: the kidney-specific chloride channels ClCKA and ClCKB, the Barttin subunit, and their clinical relevance. Nat Clin Pract Nephrol. 2008 Jan;4(1):38-46. doi: 10.1038/ncpneph0689.
- Nozu K, Inagaki T, Fu XJ, Nozu Y, Kaito H, Kanda K, Sekine T, Igarashi T, Nakanishi K, Yoshikawa N, Iijima K, Matsuo M. Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness. J Med Genet. 2008 Mar;45(3):182-6. doi: 10.1136/jmg.2007.052944.
- Schlingmann KP, Konrad M, Jeck N, Waldegger P, Reinalter SC, Holder M, Seyberth HW, Waldegger S. Salt wasting and deafness resulting from mutations in two chloride channels. N Engl J Med. 2004 Mar 25;350(13):1314-9. doi: 10.1056/NEJMoa032843. No abstract available.
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