CCNF Chromosome 16
Cyclin F
Upload your DNA to see your personal genotypes for variants in CCNF.
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
RS143974143
Conflicting classifications of pathogenicity
Health Risk
RS771621178
Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
Health Risk
RS954539468
Pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
Health Risk
RS778264897
Pathogenic/Likely pathogenic
Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, Frontotemporal dementia and/or amyotrophic lateral sclerosis 5
Health Risk
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 |