Gene: CCNO

Alternate names for this Gene: CCNU|CILD29|UDG2

Gene Summary: This gene encodes a member of the cyclin protein family, and the encoded protein is involved in regulation of the cell cycle. Disruption of this gene is associated with primary ciliary dyskinesia-19. Alternative splicing results in multiple transcript variants. This gene, which has a previous symbol of UNG2, was erroneously identified as a uracil DNA glycosylase in PubMed ID: 2001396. A later publication, PubMed ID: 8419333, identified this gene's product as a cyclin protein family member. The UNG2 symbol is also used as a specific protein isoform name for the UNG gene (GeneID 7374), so confusion exists in the scientific literature and in some databases for these two genes.

Gene is located in Chromosome: 5

Location in Chromosome : 5q11.2

Description of this Gene: cyclin O

Type of Gene: protein-coding

rs1060503388 in CCNO gene and Ciliary Motility Disorders PMID 24747639 2014 Mutations in CCNO result in congenital mucociliary clearance disorder with reduced generation of multiple motile cilia.

PMID 26139845 2015 Whole-Exome Sequencing and Targeted Copy Number Analysis in Primary Ciliary Dyskinesia.

PMID 26777464 2016 Systematic Analysis of CCNO Variants in a Defined Population: Implications for Clinical Phenotype and Differential Diagnosis.

PMID 24824133 2015 Unexpected genetic heterogeneity for primary ciliary dyskinesia in the Irish Traveller population.