DISEASES

Disease-gene associations mined from literature

Literature associating CCDC8 and 3-M syndrome

CCDC8 [ENSP00000303158]

Coiled-coil domain-containing protein 8; Core component of the 3M complex, a complex required to regulate microtubule dynamics and genome integrity. It is unclear how the 3M complex regulates microtubules, it could act by controlling the level of a microtubule stabilizer . Required for localization of CUL7 to the centrosome .

Synonyms:  CCDC8,  CCDC8p,  hCCDC8,  Q9H0W5,  Q9H0W5p ...

Linkouts:  STRING  Pharos  UniProt  OMIM