| 词条 | GJB2 |
| 释义 |
Gap junction beta-2 protein (GJB2), also known as connexin 26 (Cx26) — is a protein that in humans is encoded by the GJB2 gene. Clinical significanceDefects in this gene lead to the most common form of congenital deafness in developed countries, called DFNB1 (also known as connexin 26 deafness or GJB2-related deafness).[1] Connexin 26 also plays a role in tumor suppression through mediation of the cell cycle.[2] The abnormal expression of Cx26, correlated with several types of human cancers, may serve as a prognostic factor for cancers such as colorectal cancer,[3] breast cancer,[4] and bladder cancer.[5] Furthermore, Cx26 over-expression is suggested to promote cancer development by facilitating cell migration and invasion[6] and by stimulating the self-perpetuation ability of cancer stem cells.[7] FunctionGap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels. Proteins, called connexins, purified from fractions of enriched gap junctions from different tissues differ. The connexins are designated by their molecular mass. Another system of nomenclature divides gap junction proteins into two categories, alpha and beta, according to sequence similarities at the nucleotide and amino acid levels. For example, CX43 (GJA1) is designated alpha-1 gap junction protein, whereas GJB1 (CX32), and GJB2 (CX26; this protein) are called beta-1 and beta-2 gap junction proteins, respectively. This nomenclature emphasizes that GJB1 and GJB2 are more homologous to each other than either of them is to gap junction protein, alpha GJA1.[8]See also
References1. ^{{cite journal | vauthors = Kelsell DP, Dunlop J, Stevens HP, Lench NJ, Liang JN, Parry G, Mueller RF, Leigh IM | title = Connexin 26 mutations in hereditary non-syndromic sensorineural deafness | journal = Nature | volume = 387 | issue = 6628 | pages = 80–3 | date = May 1997 | pmid = 9139825 | doi = 10.1038/387080a0 | url = http://www.nature.com/nature/journal/v387/n6628/abs/387080a0.html }} 2. ^{{Cite journal|last=Tanaka,Motoyoshi|last2=Barton|first2=Grossman,H.|date=2004-02-01|title=Connexin 26 induces growth suppression, apoptosis and increased efficacy of doxorubicin in prostate cancer cells|url=https://www.spandidos-publications.com/or/11/2/537|journal=Oncology Reports|volume=11|issue=2|issn=1021-335X}} 3. ^{{cite journal | vauthors = Nomura S, Maeda K, Noda E, Inoue T, Fukunaga S, Nagahara H, Hirakawa K | title = Clinical significance of the expression of connexin26 in colorectal cancer | journal = Journal of Experimental & Clinical Cancer Research | volume = 29 | pages = 79 | date = June 2010 | pmid = 20565955 | doi = 10.1186/1756-9966-29-79 | url = https://doi.org/10.1186/1756-9966-29-79 }} 4. ^{{cite journal | vauthors = Teleki I, Krenacs T, Szasz MA, Kulka J, Wichmann B, Leo C, Papassotiropoulos B, Riemenschnitter C, Moch H, Varga Z | title = The potential prognostic value of connexin 26 and 46 expression in neoadjuvant-treated breast cancer | journal = BMC Cancer | volume = 13 | pages = 50 | date = February 2013 | pmid = 23374644 | doi = 10.1186/1471-2407-13-50 | url = https://doi.org/10.1186/1471-2407-13-50 }} 5. ^{{cite journal | vauthors = Gee J, Tanaka M, Grossman HB | title = Connexin 26 is abnormally expressed in bladder cancer | language = English | journal = The Journal of Urology | volume = 169 | issue = 3 | pages = 1135–7 | date = March 2003 | pmid = 12576868 | doi = 10.1097/01.ju.0000041954.91331.df | url = http://www.jurology.com/article/S0022-5347(05)63913-4/fulltext }} 6. ^{{cite journal | vauthors = Kotini M, Mayor R | title = Connexins in migration during development and cancer | journal = Developmental Biology | volume = 401 | issue = 1 | pages = 143–51 | date = May 2015 | pmid = 25553982 | doi = 10.1016/j.ydbio.2014.12.023 | url = https://www.sciencedirect.com/science/article/pii/S0012160614006538 }} 7. ^{{cite journal | vauthors = Thiagarajan PS, Sinyuk M, Turaga SM, Mulkearns-Hubert EE, Hale JS, Rao V, Demelash A, Saygin C, China A, Alban TJ, Hitomi M, Torre-Healy LA, Alvarado AG, Jarrar A, Wiechert A, Adorno-Cruz V, Fox PL, Calhoun BC, Guan JL, Liu H, Reizes O, Lathia JD | display-authors = 6 | title = Cx26 drives self-renewal in triple-negative breast cancer via interaction with NANOG and focal adhesion kinase | language = En | journal = Nature Communications | volume = 9 | issue = 1 | pages = 578 | date = February 2018 | pmid = 29422613 | doi = 10.1038/s41467-018-02938-1 | url = https://www.nature.com/articles/s41467-018-02938-1 }} 8. ^{{cite web | title = Entrez Gene: GJB2 gap junction protein, beta 2, 26kDa| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2706 }} Further reading{{Refbegin | 2}}
1 : Connexins |
| 随便看 |
|
开放百科全书收录14589846条英语、德语、日语等多语种百科知识，基本涵盖了大多数领域的百科知识，是一部内容自由、开放的电子版国际百科全书。