Connexin 50/GJA8 Products

Description

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.

Bioinformatics

Entrez	2703 Human
Uniprot	AAI46508.1 Human NP_005258 Human NP_005258.2 Human P48165 Human
Product By Gene ID	2703
Alternate Names	alpha 8, 50kD (connexin 50) CAE Connexin-50 Cx50 CZP1 gap junction alpha-8 protein gap junction membrane channel protein alpha-8 gap junction protein, alpha 8, 50kDa (connexin 50) gap junction protein, alpha 8, 50kDa lens intrinsic membrane protein MP70 MP70