DISEASES

Disease-gene associations mined from literature

Literature associating CCDC120 and dilated cardiomyopathy 1A

CCDC120 [ENSP00000474071]

Coiled-coil domain-containing protein 120; Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells . Together with CCDC68, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical subdistal appendage assembly . Recruits NIN and CEP170 to centrosomes . Also required for neurite growth. Localizes CYTH2 to vesicles to allow its transport along neurites, and subsequent ARF6 activation and neurite growth.

Synonyms:  CCDC120,  CCDC120p,  hCCDC120,  Q96HB5,  S4R3T7 ...

Linkouts:  STRING  Pharos  UniProt