Connexin 46 (Cx46), also known as Gap Junction Protein Alpha-3 (GJA3), CAE3, CX46 and C2P3, maps to human chromosome 13q11-q12 and encodes a 46 kDa protein. Cx46, along with Cx50, is principally expressed in the lens of the eye. Cx46 mediates intercellular interactions during development and is necessary for the survival of neural crest cells. Cx46 forms gap junctions that connect lens fiber cells and are crucial for maintaining lens transparency and normal lens function. Mutations of Cx46 result in severe cataracts of the lens. Individual knockouts of Cx46 and Cx50 lead to changes in the rate of lens fiber cell differentiation and cell size, thus the interaction of Cx46 and Cx50 is required for proper organization of fiber cells.
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Protein Aliases: connexin 46; Connexin-46; Cx46; gap junction alpha 3; Gap junction alpha-3 protein; gap junction protein, alpha 3, 46kDa
Gene Aliases: CTRCT14; CX46; CZP3; GJA3
UniProt ID: (Human) Q9Y6H8
Entrez Gene ID: (Human) 2700