Connexin 50/GJA8 Proteins and Enzymes

The 433 amino acid long, 48 kDA transmembrane connexin, gap junction alpha-8 protein encoded by the GJA8 gene is critical in growth and development of lens fiber cells. Mutations in the GJA8 gene may lead to zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. The GJA8 gene has been linked to myopia, microphthalmia, neuronitis, cycstic fibrosis, neuopathy, cervical adenocarcinoma, and juvenile myoclonic epilepsy. The GJA8 gene interacts with TJP1, MIP, MED14, GJA1, and GJB1 to participate in pathways such as gap junction assembly, membrane trafficking, and connexin synthesis.