DISEASES

Disease-gene associations mined from literature

Literature associating CCDC40 and situs inversus

CCDC40 [ENSP00000380679]

Coiled-coil domain-containing protein 40; 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 CCDC39 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. Required for axonemal recruitment of CCDC39; Belongs to the CCDC40 family.

Synonyms:  CCDC40,  CCDC40p,  hCCDC40,  I3L292,  I3L2X6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM