Coiled-coil domain-containing protein 78 (CCDC78)

Coiled-coil domain-containing protein 78 (CCDC78) is primarily expressed in human skeletal muscle, localizing to the sarcoplasmic reticulum (SR), perinuclear region, and sarcolemmal membrane[1][2][4]. The protein contains two coiled-coil domains and is approximately 438 amino acids in length[2]. CCDC78 is involved in two major biological processes: (1) it acts as a component of the deuterosome, supporting de novo centriole amplification in multiciliated epithelial cells, and (2) it serves a critical muscle-specific role, interacting with the sarcoplasmic reticulum proteins SERCA1 and calsequestrin-1 (CASQ1), indicating involvement in excitation-contraction coupling and calcium ion handling in skeletal muscle[1][3]. Mutations in CCDC78 cause autosomal dominant centronuclear myopathy-4 (CNM4), a rare congenital myopathy characterized by early-onset muscle weakness, myalgia, and abnormal muscle histology including SR dilatation and triad structure abnormalities[1][4]. Expression is highest in skeletal muscle, particularly in fast-twitch (type II) fibers, and the protein potentially plays a role in cytoskeletal and calcium regulation in muscle cells[1]. There are currently no known drugs that directly target CCDC78, and it is not considered a therapeutic target at this time.

Other names

CCDC78C16orf25CNM4JFP10FLJ34512hsCCDC78sarcoplasmin

Not applicable (no approved or experimental drugs targeting CCDC78 are reported)