Target intelligence / Profile preview

Gap junction alpha-3 protein (GJA3)

Target
GJA3
Molecular classification
Ion channel, Gap junction protein, Connexin family
01

Overview

Gap junction alpha-3 protein (GJA3), also known as connexin-46, is a connexin family ion channel protein predominantly expressed in the lens fiber cells of the eye[1][4][5]. It assembles into gap junction channels forming dodecameric complexes that allow the passage of ions and small metabolites—including antioxidants—between cells, thereby maintaining lens transparency and homeostasis[1][4]. Disruptions in GJA3, particularly missense mutations, have been repeatedly linked to autosomal dominant congenital cataracts through impaired gap junction communication and loss of lens cellular homeostasis[1][3][5]. The function of GJA3 is essential for normal lens growth, differentiation, and metabolic coupling, and altered function is a clear cause of specific inherited cataract phenotypes, but GJA3 is not currently considered a common or direct therapeutic target in drug development[1][5].

Other names
Connexin-46Cx46CX46CTRCT14CZP3gap junction protein, alpha 3, 46kDagap junction protein alpha 3connexin 46
02

Biological functions

Intercellular communicationMaintenance of lens transparencyHomeostasisMetabolic couplingResponse to oxidative stress
03

Disease associations

Congenital cataract (autosomal dominant)Lens diseaseOther eye developmental defects
04

Safety considerations

Mutations can cause impaired lens cell communication leading to cataractno direct therapeutic targeting described
05

Biomarkers

Mutations/variants as biomarkers for genetic cataract diagnosis

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