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CCNQ

Function

Activating cyclin for the cyclin-associated kinase CDK10.

Involvement in disease

Toe syndactyly, telecanthus, and anogenital and renal malformations

STAR

A syndrome characterized by anal, genital and renal tract anomalies, facial dysmorphism and syndactyly. Features include anal stenosis, a rectovaginal fistula, clitoral hypertrophy, a pelvic right kidney, toe syndactyly, and telecanthus.

None

The disease is caused by variants affecting the gene represented in this entry.

Sequence Similarities

Belongs to the cyclin family. Cyclin-like FAM58 subfamily.

Alternative names

FAM58A, CCNQ, Cyclin-Q, CDK10-activating cyclin, Cyclin-M, Cyclin-related protein FAM58A

swissprot:Q8N1B3 omim:300708 entrezGene:92002