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On this page, you will find information about a genetic change that was identified in a UDN participant. We are trying to find others with the same or similar condition.
Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.
A change in this gene was identified in a female, age 9 with brain abnormalities (abnormal cerebellum morphology, cerebellar atrophy), stiffness of the legs (spastic paraplegia) and muscle fiber disease (myopathy) (read full description).
Jun 18, 2020
Cyclin F is the largest known human cyclin and is one of the components of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex. This complex mediates the ubiquitination and degradation of CP110, which is essential in mitosis and required for genome integrity (D’Angiolella et al., 2010).
A change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.
Interested in learning more about this gene or sharing what you know? Contact us!