gap junction protein beta 3
Last updated 18 Aug 2020
Meets Patient’s editorial guidelines
- DownloadDownload
- Share
- Language
- Discussion
- Audio Version
- Add to preferred sources on Google
The GJB3 gene provides instructions for making a protein called gap junction beta 3, more commonly known as connexin 31. This protein is part of the connexin family, a group of proteins that form channels called gap junctions on the surface of cells. Gap junctions open and close to regulate the flow of nutrients, charged atoms (ions), and other signaling molecules from one cell to another. They are essential for direct communication between neighboring cells.
Normal function
The GJB3 gene provides instructions for making a protein called gap junction beta 3, more commonly known as connexin 31. This protein is part of the connexin family, a group of proteins that form channels called gap junctions on the surface of cells. Gap junctions open and close to regulate the flow of nutrients, charged atoms (ions), and other signaling molecules from one cell to another. They are essential for direct communication between neighboring cells.
Connexin 31 is found in several different parts of the body, including the outermost layer of the skin (the epidermis) and structures of the inner ear. Connexin 31 plays a role in the growth and maturation of cells in the epidermis. The exact role of this protein in the inner ear is less clear, although it appears to be involved in hearing.
Conditions referring to this gene or chromosome
Other names
connexin 31
CX31
CXB3_HUMAN
DFNA2
gap junction protein, beta 3, 31kDa
PNHI
Related patient information and medicines
Patient information leaflet
Myasthenia 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). 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
Can I take Lansoprazole and Mirabegron together?
There are no known significant interactions between lansopra... It is generally considered safe to take these two medications together. Why this happens Lansoprazole is a proton pump inhibitor used to reduce stomach acid, while mirabegron is a beta-3 adrenergic agonist used for overactive bladder. They are processed by different pathways in the.
Patient information leaflet
Can I take Shiitake and Turkey tail together?
Why this happens Both mushrooms contain bioactive compounds called beta-glucans. These work in a similar way to support immune functio... General Food Intake These medicinal mushrooms contain complex polysaccharides (beta-glucans). Disclaimer This information is for general educational purposes only and should not be relied upon as a substitute.
Patient information leaflet
Can I take Royal sun and White button together?
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). Our Medicines Interaction Checker helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take.
Patient information leaflet
Can I take Royal sun and Shiitake together?
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 ... Our Medicines Interaction Checker helps you check whether your prescriptions, over-the-counter medicines, and supplements are.
Patient information leaflet
Can I take Adcal-D3 and Omega-3 together?
There is no known harmful interaction between Adcal-D3 and Omega-3 (fish oil) supplements. In fact, taking them together may be slightly beneficial for bone health. Simply search for your medicines to see potential interactions ... Disclaimer This information is for general educational purposes only and should not be relied upon as a substitute.
Further reading and references
- gap junction protein beta 3; MedlinePlus, National Library of Medicine.
- Chi J, Li L, Liu M, Tan J, Tang C, Pan Q, Wang D, Zhang Z. Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death. PLoS One. 2012;7(2):e32531. doi: 10.1371/journal.pone.0032531. Epub 2012 Feb 29.
- Diestel S, Richard G, Doring B, Traub O. Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells. Biochem Biophys Res Commun. 2002 Aug 23;296(3):721-8. doi: 10.1016/s0006-291x(02)00929-4.
- Easton JA, Albuloushi AK, Kamps MAF, Brouns GHMR, Broers JLV, Coull BJ, Oji V, van Geel M, van Steensel MAM, Martin PE. A rare missense mutation in GJB3 (Cx31G45E) is associated with a unique cellular phenotype resulting in necrotic cell death. Exp Dermatol. 2019 Oct;28(10):1106-1113. doi: 10.1111/exd.13542. Epub 2018 May 10.
- Liu XZ, Xia XJ, Xu LR, Pandya A, Liang CY, Blanton SH, Brown SD, Steel KP, Nance WE. Mutations in connexin31 underlie recessive as well as dominant non-syndromic hearing loss. Hum Mol Genet. 2000 Jan 1;9(1):63-7. doi: 10.1093/hmg/9.1.63.
- Oh SK, Choi SY, Yu SH, Lee KY, Hong JH, Hur SW, Kim SJ, Jeon CJ, Kim UK. Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss. Biochim Biophys Acta. 2013 Jan;1832(1):285-91. doi: 10.1016/j.bbadis.2012.05.009. Epub 2012 May 19.
- Petersen MB, Willems PJ. Non-syndromic, autosomal-recessive deafness. Clin Genet. 2006 May;69(5):371-92. doi: 10.1111/j.1399-0004.2006.00613.x.
- Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH Jr, DiGiovanna JJ, Compton JG, Bale SJ. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Nat Genet. 1998 Dec;20(4):366-9. doi: 10.1038/3840.
- Scott CA, O'Toole EA, Mohungoo MJ, Messenger A, Kelsell DP. Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis. Clin Exp Dermatol. 2011 Jan;36(1):88-90. doi: 10.1111/j.1365-2230.2010.03945.x.
- Sugiura K, Arima M, Matsunaga K, Akiyama M. The novel GJB3 mutation p.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermia variabilis. Br J Dermatol. 2015 Jul;173(1):309-11. doi: 10.1111/bjd.13641. Epub 2015 May 28. No abstract available.
- Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR, Xie W, Hu DX, Zheng D, Shi XL, Wang DA, Xia K, Yu KP, Liao XD, Feng Y, Yang YF, Xiao JY, Xie DH, Huang JZ. Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat Genet. 1998 Dec;20(4):370-3. doi: 10.1038/3845.
Join the conversation
Share your thoughts or experiences with others in our patient communities.
Ask, share, connect.
Browse discussions, ask questions, and share experiences across hundreds of health topics.
Sign up to the Patient newsletter
Your weekly dose of clear, trustworthy health advice - written to help you feel informed, confident and in control.
By subscribing you accept our Privacy Policy. You can unsubscribe at any time. We never sell your data.