CCDC17 (coiled-coil domain containing 17) is a protein containing coiled-coil domains with putative involvement in ciliary and axonemal structures based on Gene Ontology annotations. While CCDC17's primary molecular function remains incompletely characterized, emerging evidence suggests relevance to human disease. CCDC17 shows aberrant DNA methylation in keratoacanthoma and squamous cell carcinoma, with hypermethylation of CCDC17 gene body CGI islands detected at significantly higher levels in keratoacanthoma samples compared to normal epidermis 1. Most notably, CCDC17 has been identified as a potentially novel gene associated with congenital microcephaly in a Brazilian cohort, where pathogenic variants were detected in patients presenting with syndromic microcephaly accompanied by neurodevelopmental disorders, global developmental delay, and brain malformations 2. Additionally, CCDC17 was incorporated into a prognostic risk model for lung adenocarcinoma patients based on retinoic acid metabolism-related genes, suggesting potential involvement in cancer progression and prognosis prediction 3. However, the specific molecular mechanisms underlying CCDC17 function in these disease contexts require further investigation. The gene's association with ciliary structures combined with its disease relevance in neurodevelopmental and malignant conditions warrants comprehensive functional studies.
No related genes found for this gene.