Disease-gene associations mined from literature

Literature associating CCDC78 and congenital fiber-type disproportion

CCDC78 [ENSP00000293889]

Coiled-coil domain-containing protein 78; Component of the deuterosome, a structure that promotes de novo centriole amplification in multiciliated cells that can generate more than 100 centrioles. Deuterosome-mediated centriole amplification occurs in terminally differentiated multiciliated cells (G1/0) and not in S phase. Essential for centriole amplification and is required for CEP152 localization to the deuterosome.

Synonyms:  CCDC78,  CCDC78p,  hCCDC78,  A2IDD5,  I3L158 ...

Linkouts:  STRING  Pharos  UniProt  OMIM