Features include common findings: Amyotrophic lateral sclerosis; and sometimes findings: Frontotemporal dementia. 8 total HPO annotations.

CCNF encodes cyclin F (786 aa). Substrate recognition component of a SCF (SKP1-CUL1-F-box protein) E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Highest expression in Cells EBV-transformed lymphocytes (31.4 TPM) and Brain Cerebellum (10.6 TPM).

Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 has limited evidence linking it to mutations in the CCNF gene on chromosome 16.

CCNF is classified as a druggable target (Kinase and Tumor Suppressor categories) with score 0.0.

Genetic testing for CCNF is available. Testing is considered research-grade for diagnosis.

Biomarker and diagnostic research for frontotemporal dementia and/or amyotrophic lateral sclerosis 5 has been reported in the published literature.

Phenotype severity distribution: 1 common feature.

No clinical trials have been registered for frontotemporal dementia and/or amyotrophic lateral sclerosis 5.

348 publications have been identified in PubMed for frontotemporal dementia and/or amyotrophic lateral sclerosis 5. Research spans Basic Science / Preclinical (37%), Review / Meta-Analysis (22%), and Diagnostic / Biomarker (15%).