This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome.
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Protein Aliases: alpha 8 connexin; cell surface glycoprotein; connexin 50; Connexin-49; Connexin-50; Cx49; Cx50; gap junction alpha 8; Gap junction alpha-8 protein; gap junction membrane channel protein alpha 8; gap junction membrane channel protein alpha-8; gap junction protein alpha 8 50kDa; gap junction protein, alpha 8, 50kDa; Lens fiber protein MP70; lens intrinsic membrane protein MP70; lens opacity 10; MP38; MP64
Gene Aliases: Aey5; CAE; CAE1; Cnx50; CTRCT1; CX50; CZP1; GJA8; Lop10; MP70
Molecular Function: gap junction