gap junction protein alpha 1
Última actualización 26 Sept 2025
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
The GJA1 gene provides instructions for making a protein called gap junction alpha-1 protein. Because this protein is one of a large family of connexin proteins, it is commonly called connexin 43. Connexins play a role in cell-to-cell communication by forming channels, or gap junctions, on the surface of cells. Gap junctions allow for the transport of nutrients, charged particles (ions), and other small molecules that carry necessary communication signals between cells. Connexin 43 is important for the normal development and function of cells in many different tissues of the body, including the eyes, skin, bone, ears, and brain. Connexin 43 is also thought to play a role in coordinating muscle cell contractions, which helps the heart pump blood effectively.
Normal function
The GJA1 gene provides instructions for making a protein called gap junction alpha-1 protein. Because this protein is one of a large family of connexin proteins, it is commonly called connexin 43. Connexins play a role in cell-to-cell communication by forming channels, or gap junctions, on the surface of cells. Gap junctions allow for the transport of nutrients, charged particles (ions), and other small molecules that carry necessary communication signals between cells. Connexin 43 is important for the normal development and function of cells in many different tissues of the body, including the eyes, skin, bone, ears, and brain. Connexin 43 is also thought to play a role in coordinating muscle cell contractions, which helps the heart pump blood effectively.
Conditions referring to this gene or chromosome
Otros nombres
connexin 43
CX43
Cx43α1
gap junction protein, alpha 1, 43kDa
gap junction protein, alpha-like
Related patient information and medicines
Patient information leaflet
enfermedad de Parkinson
For example, one main aim of research is to find medicines that prevent the damage to the affected cells, rather than just treating the symptoms, which is the main value o... Further research on these chemicals continues. Research is underway using stem cell therapy to help treat PD. Other researchers are looking at alpha synuclein, a fuentes de proteína that.
Patient information leaflet
Pruebas de función hepática
Liver function tests are also used for monitoring in cases of known liver inflammation, injury or disease. What are the main liver function tests. Copper/caeruloplasmin (measures of copper management by the body). Alfa-1 antitripsina (a hormone involved in protecting liver and lung cells from injury). Clotting factors (particularly if there is a.
Patient information leaflet
Enfisema
Enfisema es a progressive lung condition that is a form of chronic obstructive pulmonary disease. Breathing indoor pollutants (such as fumes from heating fuel), as well as outdoor pollutants (su... Deficiencia de alfa-1-antitripsina. There is a rare genetic disorder called alpha-1-antitrypsin deficiency which leads to an inherited deficiency of a.
Patient information leaflet
Deficiencia de alfa-1 antitripsina
Deficiencia de alfa-1 antitripsina es an inherited genetic condition. A genetic condition is one that can be passed on from parents through genes. What is alpha-1 antitrypsin. Alpha-1 antitrypsin (A1AT) is a protein made by cells in the liver. It passes from the liver into the bloodstream and can travel to the lungs. A genetic condition is o... It was.
Patient information leaflet
Miastenia gravis
Myasthenia gravis (MG) is a condition where muscles become easily tired and weak. It is due to a problem with how the nerves stimulate the muscles to tighten (contract). The muscles around the eyes are commonly affected first. There is a tiny gap between the ends of the nerves and the surface of the muscle. This gap is called the neuromuscular.
Patient information leaflet
Artritis reumatoide
Treatments include disease-modifying medicines to suppress inflammat... The earlier treatment is started, the less joint damage is likely to occur. Surgery is needed in some cases if a joint becomes badly damaged. What is artritis reumatoide. Arthritis means inflammation of joints. Rheumatoid arthritis (RA) es a fairly common form of arthritis..
Lecturas adicionales y referencias
- gap junction protein alpha 1; MedlinePlus, National Library of Medicine.
- Boyden LM, Craiglow BG, Zhou J, Hu R, Loring EC, Morel KD, Lauren CT, Lifton RP, Bilguvar K, Paller AS, Choate KA. Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia. J Invest Dermatol. 2015 Jun;135(6):1540-1547. doi: 10.1038/jid.2014.485. Epub 2014 Nov 14.
- Debeer P, Van Esch H, Huysmans C, Pijkels E, De Smet L, Van de Ven W, Devriendt K, Fryns JP. Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD). Eur J Med Genet. 2005 Oct-Dec;48(4):377-87. doi: 10.1016/j.ejmg.2005.05.003.
- Hu Y, Chen IP, de Almeida S, Tiziani V, Do Amaral CM, Gowrishankar K, Passos-Bueno MR, Reichenberger EJ. A novel autosomal recessive GJA1 missense mutation linked to Craniometaphyseal dysplasia. PLoS One. 2013 Aug 12;8(8):e73576. doi: 10.1371/journal.pone.0073576. eCollection 2013.
- Moorer MC, Hebert C, Tomlinson RE, Iyer SR, Chason M, Stains JP. Defective signaling, osteoblastogenesis and bone remodeling in a mouse model of connexin 43 C-terminal truncation. J Cell Sci. 2017 Feb 1;130(3):531-540. doi: 10.1242/jcs.197285. Epub 2017 Jan 3.
- Paznekas WA, Boyadjiev SA, Shapiro RE, Daniels O, Wollnik B, Keegan CE, Innis JW, Dinulos MB, Christian C, Hannibal MC, Jabs EW. Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. Am J Hum Genet. 2003 Feb;72(2):408-18. doi: 10.1086/346090. Epub 2002 Nov 27.
- Pierpont ME, Brueckner M, Chung WK, Garg V, Lacro RV, McGuire AL, Mital S, Priest JR, Pu WT, Roberts A, Ware SM, Gelb BD, Russell MW; American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. Circulation. 2018 Nov 20;138(21):e653-e711. doi: 10.1161/CIR.0000000000000606.
- Richardson R, Donnai D, Meire F, Dixon MJ. Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. J Med Genet. 2004 Jan;41(1):60-7. doi: 10.1136/jmg.2003.012005. No abstract available.
- Talbot J, Brion R, Lamora A, Mullard M, Morice S, Heymann D, Verrecchia F. Connexin43 intercellular communication drives the early differentiation of human bone marrow stromal cells into osteoblasts. J Cell Physiol. 2018 Feb;233(2):946-957. doi: 10.1002/jcp.25938. Epub 2017 May 23.
- van Steensel MA, Spruijt L, van der Burgt I, Bladergroen RS, Vermeer M, Steijlen PM, van Geel M. A 2-bp deletion in the GJA1 gene is associated with oculo-dento-digital dysplasia with palmoplantar keratoderma. Am J Med Genet A. 2005 Jan 15;132A(2):171-4. doi: 10.1002/ajmg.a.30412.
- Wang H, Cao X, Lin Z, Lee M, Jia X, Ren Y, Dai L, Guan L, Zhang J, Lin X, Zhang J, Chen Q, Feng C, Zhou EY, Yin J, Xu G, Yang Y. Exome sequencing reveals mutation in GJA1 as a cause of keratoderma-hypotrichosis-leukonychia totalis syndrome. Hum Mol Genet. 2015 Jan 1;24(1):243-50. doi: 10.1093/hmg/ddu442. Epub 2014 Aug 28.
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.