Coiled-coil domain-containing protein 126 (CCDC126)

CCDC126 encodes a coiled-coil domain-containing protein found primarily in the membrane; its primary sequence and expression patterns have been described, but its biochemical functions and interacting partners are largely uncharacterized[3]. It has been implicated through transcriptomic and proteomic studies in eye development, specifically retinal integrity and photoreceptor maintenance, with some evidence linking loss of function or altered expression to hereditary choroidal atrophy and certain retinal disorders[2][3][4]. Additionally, its absence in plasma has utility as a candidate biomarker for the diagnosis of cholangiocarcinoma, though its established role in cellular signaling or disease mechanisms remains undefined[2]. The gene is conserved across species, and zebrafish studies support its involvement in eye development, though further functional studies are required for mechanistic elucidation[4]. In summary, CCDC126 is a membrane-associated, coiled-coil domain-containing protein with links to eye development and disease, limited biomarker evidence, and no direct status as a therapeutic target or recognized pharmacological agent interaction[3][2][4].

Other names

CCDC126Coiled-coil domain-containing protein 126UNQ786/PRO1605FLJ23031