CCNQ

cyclin Q

Ensembl:
ENSG00000262919
UniProt:
Q8N1B3
OMIM:
300708
Synonyms:
CYCM, FAM58A

Cilia effects upon perturbation of CCNQ

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

Subcellular localization

cilia associated gene

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).

Model organism evidence

Danio rerio (1 reference)

The "toe syndactyly, telecanthus and anogenital and renal malformations" (STAR) syndrome is a rare X-linked dominant inherited kidney ciliopathy caused by CCNQ gene mutations.

PMIDs: 36284407