CCNQ

Cilia effects upon perturbation of CCNQ

Cilia number / % ciliated:

Increased cilia number

Loss-of-function effect:

Longer cilia

Overexpression effect:

Shorter cilia

Phenotypes

Mouse phenotype:

abnormal embryo size, preweaning lethality, complete penetrance, embryonic growth retardation, increased circulating triglyceride level, embryonic lethality prior to organogenesis, embryonic lethality prior to tooth bud stage

Human ciliopathy phenotype:

syndactyly-telecanthus-anogenital and renal malformations syndrome; Syndactyly - telecanthus - anogenital and renal malformations

Ciliopathy associations

• STAR Syndrome

References: PMID:28225384, PMID:39887729, PMID:27104747

Subcellular localization

basal body

References: PMID:37072495, PMID:27104747

Functional category

• Ciliary assembly/disassembly

Function

Mutations in the CCNQ gene cause STAR Syndrome (PMID: 28225384). The gene causes STAR syndrome with Syndactyly, telecanthus, anogenital and renal malformations symptoms (37072495). Cyclin M forms an active kinase complex with CDK10 that localizes to the base of the primary cilium, at the mother centriole. Loss of Cyclin M or CDK10 lengthens cilia and increases ciliogenesis, whereas overexpression shortens cilia and decreases ciliogenesis (PMID 27104747).