Cl-/H+ antiporter 7
Última actualización 2 Mar 2026
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
El CLCN7 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
El CLCN7 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.
El CLCN7 gene provides instructions for making a chloride channel called ClC-7. These channels are abundant in cells throughout the body. They are particularly important for the normal function of osteoclasts, which are specialized cells that break down bone tissue. Osteoclasts are involved in bone remodeling, a normal process in which old bone is removed and new bone is created to replace it. Bones are constantly being remodeled, and the process is carefully controlled to ensure that bones stay strong and healthy.
ClC-7 channels help regulate the relative acidity (pH) of osteoclasts. These channels transport two negatively charged chloride ions out of these cells for every positively charged hydrogen atom (hydrogen ion) that flows in. In this way, ClC-7 channels help balance the acidic environment that osteoclasts use to dissolve bone tissue. The pH inside and outside osteoclasts must be carefully controlled for these cells to break down bone effectively.
Conditions referring to this gene or chromosome
Otros nombres
chloride channel 7
chloride channel protein 7
chloride channel, voltage-sensitive 7
CLC-7
CLC7
OPTA2
PPP1R63
Related patient information and medicines
Patient information leaflet
¿Puedo tomar Hidroxocobalamina y Clopidogrel juntos?
There are no known interactions between hydroxocobalamin (a form of Vitamin B12) and clopidogrel (Zentiva brand). Why... Hydroxocobalamin is a vitamin used for red blood cell production and nerve health, while clopidogrel es an antiplatelet medicine used to prevent blood clots. They do not interfere with how each other is absorbed, broken down, or.
Patient information leaflet
Sarampión
Measles is an infection that mainly affects children but can occur at any age. It is rare in the UK, due to immunisation. The illness is unpleasant but most children fully recover. This is called 'post-exposure prophylaxis'. See the guidelines from the UK Health Security Agency (UKHSA) cited at the end under 'Further Reading and References'. How.
Patient information leaflet
¿Puedo tomar Clopidogrel y Gabapentina juntos?
There are no known significant interactions between clopidogrel and gabapentin. It is generally considered safe to take these two medicines together. Why this happens Clopidogrel and gabapentin are processed by the body using different pathways. Clopidogrel is activated by liver enzymes (specifically CYP2C19), while gabapentin is not processed by.
Patient information leaflet
¿Puedo tomar Lansoprazol y Clopidogrel juntos?
Lansoprazole may make clopidogrel less effective at preventing blood clots. This could potentially increase your risk of having a heart attack or stroke while taking both medicines together. Simply search... Descargo de responsabilidad This information is for general educational purposes only y should not be relied upon as a substitute for professional medical.
Patient information leaflet
Coartación de la aorta
Coartación de la aorta es un type of congenital heart disease where there is a narrowing in part of the aorta, the main artery that leaves the left side of the heart. What is coarctation of the aorta. In coarctation of the aorta, there is a narrowing in part of the aorta, usually the upper part of the aorta. This is just after where the arteries.
Patient information leaflet
¿Puedo tomar Ginkgo biloba y Aspirina juntos?
Why this happens Both substances affect how your blood clots, but in different ways. Aspirin is an antiplatelet medicine that stops blood cells (platelets) from sticking together. Ginkgo biloba also has blood-thinning properties. Using other medicines Taking multipl... Our Verificador de Interacciones de Medicamentos helps you check whether your prescriptions,.
Lecturas adicionales y referencias
- Cl-/H+ antiporter 7; MedlinePlus, National Library of Medicine.
- Cleiren E, Benichou O, Van Hul E, Gram J, Bollerslev J, Singer FR, Beaverson K, Aledo A, Whyte MP, Yoneyama T, deVernejoul MC, Van Hul W. Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. Hum Mol Genet. 2001 Dec 1;10(25):2861-7. doi: 10.1093/hmg/10.25.2861.
- Del Fattore A, Peruzzi B, Rucci N, Recchia I, Cappariello A, Longo M, Fortunati D, Ballanti P, Iacobini M, Luciani M, Devito R, Pinto R, Caniglia M, Lanino E, Messina C, Cesaro S, Letizia C, Bianchini G, Fryssira H, Grabowski P, Shaw N, Bishop N, Hughes D, Kapur RP, Datta HK, Taranta A, Fornari R, Migliaccio S, Teti A. Clinical, genetic, and cellular analysis of 49 osteopetrotic patients: implications for diagnosis and treatment. J Med Genet. 2006 Apr;43(4):315-25. doi: 10.1136/jmg.2005.036673. Epub 2005 Aug 23.
- Frattini A, Pangrazio A, Susani L, Sobacchi C, Mirolo M, Abinun M, Andolina M, Flanagan A, Horwitz EM, Mihci E, Notarangelo LD, Ramenghi U, Teti A, Van Hove J, Vujic D, Young T, Albertini A, Orchard PJ, Vezzoni P, Villa A. Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. J Bone Miner Res. 2003 Oct;18(10):1740-7. doi: 10.1359/jbmr.2003.18.10.1740.
- Kornak U, Kasper D, Bosl MR, Kaiser E, Schweizer M, Schulz A, Friedrich W, Delling G, Jentsch TJ. Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. Cell. 2001 Jan 26;104(2):205-15. doi: 10.1016/s0092-8674(01)00206-9.
- Pangrazio A, Pusch M, Caldana E, Frattini A, Lanino E, Tamhankar PM, Phadke S, Lopez AG, Orchard P, Mihci E, Abinun M, Wright M, Vettenranta K, Bariae I, Melis D, Tezcan I, Baumann C, Locatelli F, Zecca M, Horwitz E, Mansour LS, Van Roij M, Vezzoni P, Villa A, Sobacchi C. Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations. Hum Mutat. 2010 Jan;31(1):E1071-80. doi: 10.1002/humu.21167.
- Scheel O, Zdebik AA, Lourdel S, Jentsch TJ. Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins. Nature. 2005 Jul 21;436(7049):424-7. doi: 10.1038/nature03860.
- Sobacchi C, Villa A, Schulz A, Kornak U. CLCN7-Related Osteopetrosis. 2007 Feb 12 [updated 2022 Jan 20]. 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/NBK1127/
- Waguespack SG, Hui SL, Dimeglio LA, Econs MJ. Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation. J Clin Endocrinol Metab. 2007 Mar;92(3):771-8. doi: 10.1210/jc.2006-1986. Epub 2006 Dec 12.
- Waguespack SG, Koller DL, White KE, Fishburn T, Carn G, Buckwalter KA, Johnson M, Kocisko M, Evans WE, Foroud T, Econs MJ. Chloride channel 7 (ClCN7) gene mutations and autosomal dominant osteopetrosis, type II. J Bone Miner Res. 2003 Aug;18(8):1513-8. doi: 10.1359/jbmr.2003.18.8.1513.
Únete a la conversación
Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.
Pregunta, comparte, conecta.
Navega por discusiones, haz preguntas y comparte experiencias en cientos de temas de salud.
Suscríbete al boletín de Patient
Tu dosis semanal de consejos de salud claros y confiables, escritos para ayudarte a sentirte informado, seguro y en control.
Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.