GJA3 gene


Gene (OMIM No.)
Function of gene/protein
  • Protein: gap junction alpha 3 protein/ connexin 46
  • Structural component of lens fibre gap junctions
  • Formation of channels through which neighboring cells can communicate and allow small molecules and ions to diffuse between cells
  • Maintaining lens transparency and its optical properties by regulating ionic and water balance in lens cells
Clinical phenotype
(OMIM phenotype no.)
  • Cataract 14, multiple types (#601885)
  • Autosomal dominant
Ocular features
Systemic features
  • No extraocular features have been reported
Key investigations
  • Measurement of corneal diameter
  • B-scan USS to measure axial length to document microphthalmia and detect any posterior segment abnormalities
  • Electrophysiology
  • TORCH screen
  • Assessment with a pediatrician if suspicious of systemic involvement
Molecular diagnosisNext generation sequencing
  • Targeted gene panels (cataract)
  • Whole exome sequencing
  • Whole genome sequencing
Therapies under research
  • None at present
Further information

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  1.  Burdon KP, Wirth MG, Mackey DA, et al. A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance [published correction appears in J Med Genet. 2005 Mar;42(3):288] [published correction appears in J Med Genet. 2008 Apr;45(4):256]. J Med Genet. 2004;41(8):e106
  2.  Chang B, Wang X, Hawes NL, et al. A Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice. Hum Mol Genet. 2002;11(5):507‐513
  3.  Li Y, Wang J, Dong B, Man H. A novel connexin46 (GJA3) mutation in autosomal dominant congenital nuclear pulverulent cataract. Mol Vis. 2004;10:668‐671
  4.  Mackay D, Ionides A, Kibar Z, et al. Connexin46 mutations in autosomal dominant congenital cataract. Am J Hum Genet. 1999;64(5):1357‐1364
  5.  Minogue PJ, Liu X, Ebihara L, Beyer EC, Berthoud VM. An aberrant sequence in a connexin46 mutant underlies congenital cataracts. J Biol Chem. 2005;280(49):40788‐40795
  6.  Rees MI, Watts P, Fenton I, et al. Further evidence of autosomal dominant congenital zonular pulverulent cataracts linked to 13q11 (CZP3) and a novel mutation in connexin 46 (GJA3). Hum Genet. 2000;106(2):206‐209
  7.  White TW. Unique and redundant connexin contributions to lens development. Science. 2002;295(5553):319‐320
  8.  Zhang L, Qu X, Su S, Guan L, Liu P. A novel mutation in GJA3 associated with congenital Coppock-like cataract in a large Chinese family. Mol Vis. 2012;18:2114‐2118
  9.  Zhang X, Wang L, Wang J, Dong B, Li Y. Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family. Mol Vis. 2012;18:203‐210

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Updated on November 30, 2020
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