Coiled-coil domain containing protein 8 (CCDC8)

Coiled-coil domain containing protein 8 (CCDC8) is a multifunctional, membrane-associated protein and a key component of the 3M complex, which includes CUL7 and OBSL1[5][6]. This complex is essential for maintaining normal cell growth, genome integrity, and microtubule dynamics[5]. CCDC8 acts as a cofactor for p53-mediated apoptosis following DNA damage by modulating Tip60-dependent acetylation of p53[3][6]. It participates in growth hormone and insulin-like growth factor signaling pathways and is crucial for skeletal development[6]. Pathogenic mutations in CCDC8 result in 3M syndrome, a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation and skeletal abnormalities[1][3]. Recent research indicates CCDC8 can inhibit HIV-1 particle formation and facilitate their degradation in lysosomes, reflecting additional roles in membrane trafficking and viral infection responses[1]. There are currently no approved drugs that directly target CCDC8, nor major safety concerns around it as a drug target. However, its mutation status is useful diagnostically for 3M syndrome[1][6].

Other names

CCDC8Coiled-coil domain containing 8p903M3DKFZp564K0322PPP1R20Protein phosphatase 1, regulatory subunit 20

Not applicable; CCDC8 is not currently a therapeutic drug target[3][6].