Aliases for CCDC120 Gene
External Ids for CCDC120 Gene
Previous GeneCards Identifiers for CCDC120 Gene
This gene encodes a protein that contains a coiled-coil domain. Several alternatively spliced transcript variants encoding multiple isoforms have been found for this gene. [provided by RefSeq, Nov 2012]
GeneCards Summary for CCDC120 Gene
CCDC120 (Coiled-Coil Domain Containing 120) is a Protein Coding gene. Diseases associated with CCDC120 include Seckel Syndrome 7 and Orofaciodigital Syndrome Ix. An important paralog of this gene is INAVA.
UniProtKB/Swiss-Prot Summary for CCDC120 Gene
Centriolar protein required for centriole subdistal appendage assembly and microtubule anchoring in interphase cells (PubMed:28422092). Together with CCDC68, cooperate with subdistal appendage components ODF2, NIN and CEP170 for hierarchical subdistal appendage assembly (PubMed:28422092). Recruits NIN and CEP170 to centrosomes (PubMed:28422092). Also required for neurite growth. Localizes CYTH2 to vesicles to allow its transport along neurites, and subsequent ARF6 activation and neurite growth.