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GJA3

{{Short description|Protein-coding gene in the species Homo sapiens}}

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Gap junction alpha-3 protein is a protein that in humans is encoded by the GJA3 gene.{{cite journal |vauthors=Mackay D, Ionides A, Kibar Z, Rouleau G, Berry V, Moore A, Shiels A, Bhattacharya S | title = Connexin46 mutations in autosomal dominant congenital cataract | journal = Am J Hum Genet | volume = 64 | issue = 5 | pages = 1357–64 |date=May 1999 | pmid = 10205266 | pmc = 1377871 | doi = 10.1086/302383 }}{{cite journal |vauthors=Rosenberg AM, Gole GA | title = Morning Glory Syndrome: a report of two cases | journal = Australian and New Zealand Journal of Ophthalmology | volume = 9 | issue = 4 | pages = 263–5 |date=Jul 1982 | pmid = 7342922 | doi =10.1111/j.1442-9071.1981.tb00919.x | doi-access = }}{{cite web | title = Entrez Gene: GJA3 gap junction protein, alpha 3, 46kDa| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2700}}

Interactions

GJA3 has been shown to interact with Tight junction protein 1.{{cite journal |last=Nielsen |first=Peter A |author2=Baruch Amos |author3=Shestopalov Valery I |author4=Giepmans Ben N G |author5=Dunia Irene |author6=Benedetti E Lucio |author7=Kumar Nalin M |date=Jun 2003 |title=Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1) |journal=Mol. Biol. Cell |volume=14 |issue=6 |pages=2470–81 | issn = 1059-1524| pmid = 12808044 |doi = 10.1091/mbc.E02-10-0637 |pmc=194895 }}

References

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Further reading

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  • {{cite book|author1=Andrew L Harris |author2=Darren Locke | title = Connexins, A Guide | publisher = Springer | year = 2009 | location = New York | pages = 574 | url = https://www.springer.com/978-1-934115-46-6 | isbn = 978-1-934115-46-6}}
  • {{cite journal |vauthors=Hsieh CL, Kumar NM, Gilula NB, Francke U |title=Distribution of genes for gap junction membrane channel proteins on human and mouse chromosomes. |journal=Somat. Cell Mol. Genet. |volume=17 |issue= 2 |pages= 191–200 |year= 1991 |pmid= 1849321 |doi=10.1007/BF01232976 |s2cid=44622463 }}
  • {{cite journal | author=Willecke K |title=Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes |journal=Eur. J. Cell Biol. |volume=53 |issue= 2 |pages= 275–80 |year= 1991 |pmid= 1964417 | author2=Jungbluth S | author3=Dahl E | last4=Hennemann | first4=H | last5=Heynkes | first5=R | last6=Grzeschik | first6=KH }}
  • {{cite journal | author=Mackay D |title=A new locus for dominant "zonular pulverulent" cataract, on chromosome 13 |journal=Am. J. Hum. Genet. |volume=60 |issue= 6 |pages= 1474–8 |year= 1997 |pmid= 9199569 |doi=10.1086/515468 | pmc=1716126 | author2=Ionides A | author3=Berry V | last4=Moore | first4=Anthony | last5=Bhattacharya | first5=Shomi | last6=Shiels | first6=Alan }}
  • {{cite journal | author=Gong X |title=Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice |journal=Cell |volume=91 |issue= 6 |pages= 833–43 |year= 1998 |pmid= 9413992 |doi= 10.1016/S0092-8674(00)80471-7 | author2=Li E | author3=Klier G | last4=Huang | first4=Q | last5=Wu | first5=Y | last6=Lei | first6=H | last7=Kumar | first7=NM | last8=Horwitz | first8=J | last9=Gilula | first9=NB | doi-access=free }}
  • {{cite journal | author=Dunia I |title=Assembly of connexins and MP26 in lens fiber plasma membranes studied by SDS-fracture immunolabeling |journal=J. Cell Sci. |volume=111 |issue= 15|pages= 2109–20 |year= 1998 |pmid= 9664032 | author2=Recouvreur M | author3=Nicolas P | last4=Kumar | first4=N | last5=Bloemendal | first5=H | last6=Benedetti | first6=EL |doi=10.1242/jcs.111.15.2109 | doi-access=free}}
  • {{cite journal | author=Rees MI |title=Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3) |journal=Hum. Genet. |volume=106 |issue= 2 |pages= 206–9 |year= 2000 |pmid= 10746562 |doi=10.1007/s004390051029 | author2=Watts P | author3=Fenton I | last4=Clarke | first4=A. | last5=Snell | first5=R.G. | last6=Owen | first6=M.J. | last7=Gray | first7=J. |doi-broken-date=2024-11-02 }}
  • {{cite journal | author=Das Sarma J |title=Multimeric connexin interactions prior to the trans-Golgi network |journal=J. Cell Sci. |volume=114 |issue= Pt 22 |pages= 4013–24 |year= 2002 |pmid= 11739633 | author2=Meyer RA | author3=Wang F | last4=Abraham | first4=V | last5=Lo | first5=CW | last6=Koval | first6=M |doi=10.1242/jcs.114.22.4013 }}
  • {{cite journal |vauthors=Schubert AL, Schubert W, Spray DC, Lisanti MP |title=Connexin family members target to lipid raft domains and interact with caveolin-1 |journal=Biochemistry |volume=41 |issue= 18 |pages= 5754–64 |year= 2002 |pmid= 11980479 |doi=10.1021/bi0121656 }}
  • {{cite journal | author=Strausberg RL |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 | pmc=139241 | author2=Feingold EA | author3=Grouse LH | last4=Derge | first4=JG | last5=Klausner | first5=RD | last6=Collins | first6=FS | last7=Wagner | first7=L | last8=Shenmen | first8=CM | last9=Schuler | first9=GD |bibcode=2002PNAS...9916899M|doi-access=free }}
  • {{cite journal | author=Nielsen PA |title=Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1) |journal=Mol. Biol. Cell |volume=14 |issue= 6 |pages= 2470–81 |year= 2004 |pmid= 12808044 |doi= 10.1091/mbc.E02-10-0637 | pmc=194895 | author2=Baruch A | author3=Shestopalov VI | last4=Giepmans | first4=BN | last5=Dunia | first5=I | last6=Benedetti | first6=EL | last7=Kumar | first7=NM }}
  • {{cite journal | author=Jiang H |title=A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract |journal=Mol. Vis. |volume=9 |pages= 579–83 |year= 2003 |pmid= 14627959 | author2=Jin Y | author3=Bu L | last4=Zhang | first4=W | last5=Liu | first5=J | last6=Cui | first6=B | last7=Kong | first7=X | last8=Hu | first8=L }}
  • {{cite journal | author=Dunham A |title=The DNA sequence and analysis of human chromosome 13 |journal=Nature |volume=428 |issue= 6982 |pages= 522–8 |year= 2004 |pmid= 15057823 |doi= 10.1038/nature02379 | pmc=2665288 | author2=Matthews LH | author3=Burton J | last4=Ashurst | first4=J. L. | last5=Howe | first5=K. L. | last6=Ashcroft | first6=K. J. | last7=Beare | first7=D. M. | last8=Burford | first8=D. C. | last9=Hunt | first9=S. E. |bibcode=2004Natur.428..522D}}
  • {{cite journal |vauthors=Bennett TM, Mackay DS, Knopf HL, Shiels A |title=A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q |journal=Mol. Vis. |volume=10 |pages= 376–82 |year= 2004 |pmid= 15208569 }}
  • {{cite journal | author=Burdon KP |title=A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance |journal=J. Med. Genet. |volume=41 |issue= 8 |pages= e106 |year= 2004 |pmid= 15286166 |doi= 10.1136/jmg.2004.018333 | pmc=1735867 | author2=Wirth MG | author3=Mackey DA | last4=Russell-Eggitt | first4=IM | last5=Craig | first5=JE | last6=Elder | first6=JE | last7=Dickinson | first7=JL | last8=Sale | first8=MM }}
  • {{cite journal |vauthors=Lin D, Lobell S, Jewell A, Takemoto DJ |title=Differential phosphorylation of connexin46 and connexin50 by H2O2 activation of protein kinase Cgamma |journal=Mol. Vis. |volume=10 |pages= 688–95 |year= 2004 |pmid= 15467523 }}
  • {{cite journal | author=Gerhard DS |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 | pmc=528928 | author2=Wagner L | author3=Feingold EA | last4=Shenmen | first4=CM | last5=Grouse | first5=LH | last6=Schuler | first6=G | last7=Klein | first7=SL | last8=Old | first8=S | last9=Rasooly | first9=R }}
  • {{cite journal |vauthors=Devi RR, Reena C, Vijayalakshmi P |title=Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population |journal=Mol. Vis. |volume=11 |pages= 846–52 |year= 2006 |pmid= 16254549 }}
  • {{cite journal | author=Addison PK |title=A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family |journal=Mol. Vis. |volume=12 |pages= 791–5 |year= 2006 |pmid= 16885921 | author2=Berry V | author3=Holden KR | last4=Espinal | first4=D | last5=Rivera | first5=B | last6=Su | first6=H | last7=Srivastava | first7=AK | last8=Bhattacharya | first8=SS }}

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{{Ion channels|g4}}

Category:Connexins

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