gap junction protein beta 6
Ultimo aggiornamento 18 Ago 2020
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
L GJB6 gene provides instructions for making a protein called gap junction beta 6, more commonly known as connexin 30. Connexin 30 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, charged atoms (ions), and signaling molecules between adjoining cells. The size of the gap junction and the types of particles that move through it are determined by the particular connexin proteins that make up the channel. Gap junctions made with connexin 30 transport potassium ions and certain small molecules.
Normal function
L GJB6 gene provides instructions for making a protein called gap junction beta 6, more commonly known as connexin 30. Connexin 30 is a member of the connexin protein family. Connexin proteins form channels called gap junctions that permit the transport of nutrients, charged atoms (ions), and signaling molecules between adjoining cells. The size of the gap junction and the types of particles that move through it are determined by the particular connexin proteins that make up the channel. Gap junctions made with connexin 30 transport potassium ions and certain small molecules.
Connexin 30 is found in several different tissues throughout the body, including the brain, inner ear, skin (especially the palms of the hands and soles of the feet), hair follicles, and nail beds. Because of its presence in the inner ear, researchers are interested in this protein's role in hearing. Hearing requires the conversion of sound waves to electrical nerve impulses. This conversion involves many processes, including maintenance of the proper level of potassium ions in the inner ear. Some studies indicate that gap junctions made with connexin 30 help to maintain the correct level of potassium ions.
Conditions referring to this gene or chromosome
Altri nomi
CX30
CXB6_HUMAN
DFNA3
ED2
EDH
gap junction protein, beta 6
gap junction protein, beta 6, 30kDa
HED
Related patient information and medicines
Patient information leaflet
Miastenia grave
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). Un... There is a tiny gap between the ends of the nerves and the surface of the muscle. This gap is called the neuromuscular junction (see diagram below). The brain sends messages.
Patient information leaflet
Screening per la sindrome di Down
The rest of this leaflet concentrates on screening per Sindrome di Down and the diagnosis of Sindrome di Down during pregnancy, before the baby is born. What is the difference ... What Down's syndrome screening tests are available? 10-14 weeks - combined test The standard test for Down's syndrome includes a combination of a nuchal translucency scan.
Patient information leaflet
Posso assumere Shiitake e coda di volpe insieme?
Both are medicinal fungi that are often taken together to support th... Why this happens Both mushrooms contain bioactive compounds called beta-glucans. These work in a similar way to support immune function without interfering with how the body processes the other. General Food Intake These medicinal mushrooms contain complex polysaccharides.
Patient information leaflet
Posso prendere Royal sun e White button insieme?
Both Royal Sun (Agaricus blazei) and White Button mushrooms contain compounds that may lower blood sugar levels. General Food Intake These medicinal mushrooms contain complex polysaccharides (beta-glucans). Nostro Controllo Interazioni Farmaci helps you check whether your prescriptions, over-the-counter medicines, e supplements are safe to take.
Patient information leaflet
Posso assumere Royal sun e Shiitake insieme?
Both Royal Sun (Agaricus blazei) and Shiitake (Lentinula edodes) mushrooms contain high levels of beta-glucans, which are substances that stimulate the immune system. Taking them together may cause your immune system to become overactive. Always consult your GP, pharmacist, or another qualified healthcare professional before making decisions a....
Patient information leaflet
Posso prendere Royal sun e Turkey tail insieme?
Both Royal Sun (Agaricus blazei) and Turkey Tail (Trametes versicolor) are medicinal mushrooms that can stimulate the immune system. Taking them together may lead to an overactive immune response. Avvertenza This information is per general educational purposes only e should not be relied upon as a substitute for professional medical advice..
Ulteriori letture e riferimenti
- gap junction protein beta 6; MedlinePlus, National Library of Medicine.
- Baris HN, Zlotogorski A, Peretz-Amit G, Doviner V, Shohat M, Reznik-Wolf H, Pras E. A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis. Br J Dermatol. 2008 Dec;159(6):1373-6. doi: 10.1111/j.1365-2133.2008.08796.x. Epub 2008 Aug 19. No abstract available.
- Fujimoto A, Kurban M, Nakamura M, Farooq M, Fujikawa H, Kibbi AG, Ito M, Dahdah M, Matta M, Diab H, Shimomura Y. GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63. J Dermatol Sci. 2013 Feb;69(2):159-66. doi: 10.1016/j.jdermsci.2012.11.005. Epub 2012 Nov 16.
- Kibar Z, Dube MP, Powell J, McCuaig C, Hayflick SJ, Zonana J, Hovnanian A, Radhakrishna U, Antonarakis SE, Benohanian A, Sheeran AD, Stephan ML, Gosselin R, Kelsell DP, Christianson AL, Fraser FC, Der Kaloustian VM, Rouleau GA. Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping. Eur J Hum Genet. 2000 May;8(5):372-80. doi: 10.1038/sj.ejhg.5200471.
- Lamartine J, Munhoz Essenfelder G, Kibar Z, Lanneluc I, Callouet E, Laoudj D, Lemaitre G, Hand C, Hayflick SJ, Zonana J, Antonarakis S, Radhakrishna U, Kelsell DP, Christianson AL, Pitaval A, Der Kaloustian V, Fraser C, Blanchet-Bardon C, Rouleau GA, Waksman G. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet. 2000 Oct;26(2):142-4. doi: 10.1038/79851. No abstract available.
- Marlin S, Feldmann D, Blons H, Loundon N, Rouillon I, Albert S, Chauvin P, Garabedian EN, Couderc R, Odent S, Joannard A, Schmerber S, Delobel B, Leman J, Journel H, Catros H, Lemarechal C, Dollfus H, Eliot MM, Delaunoy JL, David A, Calais C, Drouin-Garraud V, Obstoy MF, Goizet C, Duriez F, Fellmann F, Helias J, Vigneron J, Montaut B, Matin-Coignard D, Faivre L, Baumann C, Lewin P, Petit C, Denoyelle F. GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. Arch Otolaryngol Head Neck Surg. 2005 Jun;131(6):481-7. doi: 10.1001/archotol.131.6.481.
- Mellerio J, Greenblatt D. Hidrotic Ectodermal Dysplasia 2. 2005 Apr 25 [updated 2025 Apr 3]. 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/NBK1200/
- Nickel R, Forge A. Gap junctions and connexins in the inner ear: their roles in homeostasis and deafness. Curr Opin Otolaryngol Head Neck Surg. 2008 Oct;16(5):452-7. doi: 10.1097/MOO.0b013e32830e20b0.
- Smith RJH, Ranum PT. Nonsyndromic Hearing Loss and Deafness, DFNA3 - RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 1998 Sep 28 [updated 2016 Dec 22]. 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/NBK1536/
- Xu J, Nicholson BJ. The role of connexins in ear and skin physiology - functional insights from disease-associated mutations. Biochim Biophys Acta. 2013 Jan;1828(1):167-78. doi: 10.1016/j.bbamem.2012.06.024. Epub 2012 Jul 13.
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.