Biology:GJA3
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 Generic protein structure example |
Gap junction alpha-3 protein is a protein that in humans is encoded by the GJA3 gene.[1][2][3]
Interactions
GJA3 has been shown to interact with Tight junction protein 1.[4]
References
- ↑ "Connexin46 mutations in autosomal dominant congenital cataract". Am J Hum Genet 64 (5): 1357–64. May 1999. doi:10.1086/302383. PMID 10205266.
- ↑ "Morning Glory Syndrome: a report of two cases". Australian and New Zealand Journal of Ophthalmology 9 (4): 263–5. Jul 1982. doi:10.1111/j.1442-9071.1981.tb00919.x. PMID 7342922.
- ↑ "Entrez Gene: GJA3 gap junction protein, alpha 3, 46kDa". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2700.
- ↑ Nielsen, Peter A; Baruch Amos; Shestopalov Valery I; Giepmans Ben N G; Dunia Irene; Benedetti E Lucio; Kumar Nalin M (Jun 2003). "Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1)". Mol. Biol. Cell 14 (6): 2470–81. doi:10.1091/mbc.E02-10-0637. ISSN 1059-1524. PMID 12808044.
Further reading
- Andrew L Harris; Darren Locke (2009). Connexins, A Guide. New York: Springer. pp. 574. ISBN 978-1-934115-46-6. https://www.springer.com/978-1-934115-46-6.
- "Distribution of genes for gap junction membrane channel proteins on human and mouse chromosomes.". Somat. Cell Mol. Genet. 17 (2): 191–200. 1991. doi:10.1007/BF01232976. PMID 1849321.
- Willecke K; Jungbluth S; Dahl E et al. (1991). "Six genes of the human connexin gene family coding for gap junctional proteins are assigned to four different human chromosomes". Eur. J. Cell Biol. 53 (2): 275–80. PMID 1964417.
- Mackay D; Ionides A; Berry V et al. (1997). "A new locus for dominant "zonular pulverulent" cataract, on chromosome 13". Am. J. Hum. Genet. 60 (6): 1474–8. doi:10.1086/515468. PMID 9199569.
- Gong X; Li E; Klier G et al. (1998). "Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice". Cell 91 (6): 833–43. doi:10.1016/S0092-8674(00)80471-7. PMID 9413992.
- Dunia I; Recouvreur M; Nicolas P et al. (1998). "Assembly of connexins and MP26 in lens fiber plasma membranes studied by SDS-fracture immunolabeling". J. Cell Sci. 111 (15): 2109–20. doi:10.1242/jcs.111.15.2109. PMID 9664032.
- Rees MI; Watts P; Fenton I et al. (2000). "Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)". Hum. Genet. 106 (2): 206–9. doi:10.1007/s004390051029. PMID 10746562.
- Das Sarma J; Meyer RA; Wang F et al. (2002). "Multimeric connexin interactions prior to the trans-Golgi network". J. Cell Sci. 114 (Pt 22): 4013–24. doi:10.1242/jcs.114.22.4013. PMID 11739633.
- "Connexin family members target to lipid raft domains and interact with caveolin-1". Biochemistry 41 (18): 5754–64. 2002. doi:10.1021/bi0121656. PMID 11980479.
- Strausberg RL; Feingold EA; Grouse LH et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- Nielsen PA; Baruch A; Shestopalov VI et al. (2004). "Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1)". Mol. Biol. Cell 14 (6): 2470–81. doi:10.1091/mbc.E02-10-0637. PMID 12808044.
- Jiang H; Jin Y; Bu L et al. (2003). "A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract". Mol. Vis. 9: 579–83. PMID 14627959.
- Dunham A; Matthews LH; Burton J et al. (2004). "The DNA sequence and analysis of human chromosome 13". Nature 428 (6982): 522–8. doi:10.1038/nature02379. PMID 15057823. Bibcode: 2004Natur.428..522D.
- "A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q". Mol. Vis. 10: 376–82. 2004. PMID 15208569.
- Burdon KP; Wirth MG; Mackey DA et al. (2004). "A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance". J. Med. Genet. 41 (8): e106. doi:10.1136/jmg.2004.018333. PMID 15286166.
- "Differential phosphorylation of connexin46 and connexin50 by H2O2 activation of protein kinase Cgamma". Mol. Vis. 10: 688–95. 2004. PMID 15467523.
- Gerhard DS; Wagner L; Feingold EA et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.
- "Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population". Mol. Vis. 11: 846–52. 2006. PMID 16254549.
- Addison PK; Berry V; Holden KR et al. (2006). "A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family". Mol. Vis. 12: 791–5. PMID 16885921.
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