Disease-gene associations mined from literature

Literature associating CCDC120 and Joubert syndrome 4

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,  A8K5Q5,  JM11 ...

Linkouts:  STRING  Pharos  UniProt