Disease-gene associations mined from literature

Literature associating CCDC39 and primary ciliary dyskinesia 1

CCDC39 [ENSP00000405708]

Coiled-coil domain-containing protein 39; Required for assembly of dynein regulatory complex (DRC) and inner dynein arm (IDA) complexes, which are responsible for ciliary beat regulation, thereby playing a central role in motility in cilia and flagella. Probably acts together with CCDC40 to form a molecular ruler that determines the 96 nanometer (nm) repeat length and arrangements of components in cilia and flagella (By similarity). Not required for outer dynein arm complexes assembly.

Synonyms:  CCDC39,  CCDC39p,  hCCDC39,  LOC101928882,  C9IZC4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM