GJA3
Gap junction protein, alpha 3, 46kDa | |||||||||||
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Identifiers | |||||||||||
Symbols | GJA3 ; CX46; CZP3 | ||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 9670 | ||||||||||
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RNA expression pattern | |||||||||||
More reference expression data | |||||||||||
Orthologs | |||||||||||
Template:GNF Ortholog box | |||||||||||
Species | Human | Mouse | |||||||||
Entrez | n/a | n/a | |||||||||
Ensembl | n/a | n/a | |||||||||
UniProt | n/a | n/a | |||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||
RefSeq (protein) | n/a | n/a | |||||||||
Location (UCSC) | n/a | n/a | |||||||||
PubMed search | n/a | n/a |
Gap junction protein, alpha 3, 46kDa, also known as GJA3, is a human gene.[1]
References
Further reading
- Hsieh CL, Kumar NM, Gilula NB, Francke U (1991). "Distribution of genes for gap junction membrane channel proteins on human and mouse chromosomes". Somat. Cell Mol. Genet. 17 (2): 191–200. 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.
- Rosenberg AM, Gole GA (1982). "Morning Glory Syndrome: a report of two cases". Australian journal of ophthalmology. 9 (4): 263–5. PMID 7342922.
- 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. 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. 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 ( Pt 15): 2109–20. PMID 9664032.
- Mackay D, Ionides A, Kibar Z; et al. (1999). "Connexin46 mutations in autosomal dominant congenital cataract". Am. J. Hum. Genet. 64 (5): 1357–64. PMID 10205266.
- 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. 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. PMID 11739633.
- Schubert AL, Schubert W, Spray DC, Lisanti MP (2002). "Connexin family members target to lipid raft domains and interact with caveolin-1". Biochemistry. 41 (18): 5754–64. 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.
- 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.
- Bennett TM, Mackay DS, Knopf HL, Shiels A (2004). "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. 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.
- Lin D, Lobell S, Jewell A, Takemoto DJ (2004). "Differential phosphorylation of connexin46 and connexin50 by H2O2 activation of protein kinase Cgamma". Mol. Vis. 10: 688–95. 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.
- Devi RR, Reena C, Vijayalakshmi P (2006). "Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population". Mol. Vis. 11: 846–52. 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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