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Gap Junction Protein Alpha 3 (GJa3)

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CX46; CZP3; Connexin 46

Gap Junction Protein Alpha 3 (GJa3)
CCC E198
HGNC 4277
MGI 95714
PubMed 22876138
RGD 621820
UniProt Q9Y6H8
Wiki GJA3
Using a rat cDNA probe in Southern analysis of a panel of human-mouse somatic cell hybrids, Willecke et al. (1990) assigned the GJA3 gene, which they referred to as CX46, to chromosome 13. Thus, both the GJB2 gene, or CX26, and CX46 map to chromosome 13. Hsieh et al. (1991) also mapped the GJA3 gene to chromosome 13, probably near the GJB2 gene, by probing somatic cell hybrid DNAs on Southern filters. By a comparable method, they mapped the gene in the mouse to chromosome 14. (There was hybridization also with mouse chromosome 5.) By isotopic in situ hybridization, Mignon et al. (1996) mapped the GJA3 gene to 13q11-q12 and confirmed the assignment to mouse chromosome 14.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Gap Junction Protein Alpha 3 (GJa3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Gap Junction Protein Alpha 3 (GJa3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Gap Junction Protein Alpha 3 (GJa3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Gap Junction Protein Alpha 3 (GJa3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Gap Junction Protein Alpha 3 (GJa3) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Gap Junction Protein Alpha 3 (GJa3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Gap Junction Protein Alpha 3 (GJa3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Gap Junction Protein Alpha 3 (GJa3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Gap Junction Protein Alpha 3 (GJa3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Gap Junction Protein Alpha 3 (GJa3) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Gap Junction Protein Alpha 3 (GJa3) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Gap Junction Protein Alpha 3 (GJa3) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Gap Junction Protein Alpha 3 (GJa3) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Gap Junction Protein Alpha 3 (GJa3) CLIA Kit Customized Service Offer
n/a ELISA Kit for Gap Junction Protein Alpha 3 (GJa3) ELISA Kit Customized Service Offer
  1. "Connexin46 mutations in autosomal dominant congenital cataract."Am. J. Hum. Genet. 64:1357-1364(1999) [PubMed] [Europe PMC] [Abstract]
  2. "The DNA sequence and analysis of human chromosome 13." Nature 428:522-528(2004) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3)."Hum. Genet. 106:206-209(2000) [PubMed] [Europe PMC] [Abstract]
  5. "A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract."Mol. Vis. 9:579-583(2003) [PubMed] [Europe PMC] [Abstract]
  6. "A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance."J. Med. Genet. 41:E106-E106(2004) [PubMed] [Europe PMC] [Abstract]
  7. "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. 10:376-382(2004) [PubMed] [Europe PMC] [Abstract]
  8. "A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract."Mol. Vis. 10:668-671(2004) [PubMed] [Europe PMC] [Abstract]
  9. "Two novel mutations of connexin genes in Chinese families with autosomal dominant congenital nuclear cataract."Br. J. Ophthalmol. 89:1535-1537(2005) [PubMed] [Europe PMC] [Abstract]
  10. ErratumBr. J. Ophthalmol. 90:125-125(2006)
  11. "Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population."Mol. Vis. 11:846-852(2005) [PubMed] [Europe PMC] [Abstract]
  12. "A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family."Mol. Vis. 12:791-795(2006) [PubMed] [Europe PMC] [Abstract]
  13. "The congenital 'ant-egg' cataract phenotype is caused by a missense mutation in connexin46."Mol. Vis. 12:1033-1039(2006) [PubMed] [Europe PMC] [Abstract]
  14. "A novel 'pearl box' cataract associated with a mutation in the connexin 46 (GJA3) gene."Mol. Vis. 13:797-803(2007) [PubMed] [Europe PMC] [Abstract]
  15. "A novel mutation in the connexin 46 (GJA3) gene associated with autosomal dominant congenital cataract in an Indian family."Mol. Vis. 13:1657-1665(2007) [PubMed] [Europe PMC] [Abstract]
  16. "Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3)."Mol. Vis. 16:713-719(2010) [PubMed] [Europe PMC] [Abstract]
  17. "A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family."Hum. Mutat. 32:1367-1370(2011) [PubMed] [Europe PMC] [Abstract]
  18. "A novel mutation in the GJA3 (connexin46) gene is associated with autosomal dominant congenital nuclear cataract in a Chinese family."Mol. Vis. 17:1070-1073(2011) [PubMed] [Europe PMC] [Abstract]
  19. "A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree."Mol. Vis. 17:1343-1349(2011) [PubMed] [Europe PMC] [Abstract]
  20. "A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q."Mol. Vis. 17:2255-2262(2011) [PubMed] [Europe PMC] [Abstract]
  21. "Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family."Mol. Vis. 18:203-210(2012) [PubMed] [Europe PMC] [Abstract]
  22. "Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing."Indian J. Biochem. Biophys. 50:253-258(2013) [PubMed] [Europe PMC] [Abstract]
  23. "Identification of a novel GJA3 mutation in congenital nuclear cataract."Optom. Vis. Sci. 0:0-0(2015) [PubMed] [Europe PMC] [Abstract]