CCNF Chromosome 16

Cyclin F
4 variants 4 Health Risk

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What This Gene Does
This gene encodes a member of the cyclin family. Cyclins are important regulators of cell cycle transitions through their ability to bind and activate cyclin-dependent protein kinases. This member also belongs to the F-box protein family which is characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of the ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into 3 classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbxs class and it was one of the first proteins in which the F-box motif was identified. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Cyclins|F-boxes other|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
16p13.3
Ensembl
ENSG00000162063
Associated Conditions (1)
Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
Key Variants
All Variants (4)
RSID Category Clinical Significance Conditions
RS143974143 Health Risk Conflicting classifications of pathogenicity
RS771621178 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
RS954539468 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
RS778264897 Health Risk Pathogenic/Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
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