CCNF

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 the CCNF 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).

Date of Report

Jun 18, 2020

Full Name

cyclin F

Location

Chromosome 16 (16p13.3)

Function

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).

Database Links

GeneCards: CCNF

NCBI Gene: 899

OMIM: 600227

UniProtKB/Swiss-Prot: P41002

Clinical Significance

A de novo change in this gene was identified in a UDN participant. Research is underway to see if this change is causing symptoms in this participant.

Gene CCNF

Inheritance Pattern Autosomal dominant

Position (hg19) chr16:g.2499369C>A

Transcript NM_001761.2

DNA Change c.1305C>A

Protein Change p.Cys435Ter

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