Coiled-coil domain-containing protein 22 (CCDC22)

Coiled-coil domain-containing protein 22 (CCDC22) is a scaffolding protein that is a critical component of the conserved commander (CCC) complex, alongside CCDC93 and COMMD family proteins. CCDC22 orchestrates endosomal cargo sorting and recycling, including retrieval of membrane proteins like copper transporter ATP7A and the low-density lipoprotein receptor, thereby contributing to copper and cholesterol homeostasis. It regulates NF-κB signaling by interacting with COMMD proteins and modulates the ubiquitination and degradation of IκB proteins, controlling NF-κB activation and affecting immune responses. CCDC22 associates with the WASH complex to modulate actin polymerization on endosomal membranes, supports cilia assembly, and is involved in centrosome and centriole functions. Mutations in CCDC22 are linked to X-linked intellectual disability and Ritscher-Schinzel syndrome, with effects seen in neural development, cardiac formation, and craniofacial features. No direct drugs or clinical therapeutics targeting CCDC22 are currently known.

Other names

CCC complex scaffolding subunit CCDC22CXorf37JM1RTSC2coiled-coil domain-containing protein 22coiled-coil domain containing 22