NEFL
Chr 8ADARneurofilament light chain
Also known as: CMT1F, CMT2E, CMTDIG, NF-L, NF68, NFL, PPP1R110
Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008]
Primary Disease Associations & Inheritance
Clinical highlights
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
NEFL · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Tributyrin Treatment in Mild Alzheimer Disease: Assessment of Butyrate Effects Via the Gut-Brain
NOT YET RECRUITINGHereditary Ataxia Research on Multi-Omics and Neuroclinical Insights in the Yangtze Delta
RECRUITINGExploring Biological Mechanisms Underlying the TEACH Intervention for Adolescents With Lupus
NOT YET RECRUITINGA Study to Investigate the Efficacy, Safety and Tolerability of Votoplam in Participants With Huntington's Disease
RECRUITINGFirst in Human (FIH) Study of ALN-SOD in Adult Participants With Amyotrophic Lateral Sclerosis Associated With Mutation in the SOD1 Gene (SOD1-ALS)
RECRUITINGNon-interventional Study of Patients With Transthyretin (ATTR) Amyloidosis
RECRUITINGPersonalized Antisense Oligonucleotide Therapy for A Single Patient With CHCHD10 ALS (nL18576)
NOT YET RECRUITINGCognitive Vulnerability to Stress in Individuals at Risk for Alzheimer's Disease
RECRUITINGA Study to Evaluate AB-1001 Striatal Administration in Adults With Early Manifest Huntington's Disease
ACTIVE NOT RECRUITINGUnderstanding the Impact of Meal Timing on Neurological Health in Adults With Multiple Sclerosis
NOT YET RECRUITINGSafety and Tolerability Study of CTx1000 In Participants With Amyotrophic Lateral Sclerosis
RECRUITINGThis is an Early Exploratory Study to Assess the Tolerability and Safety of GC012F in Patients With Multiple Sclerosis
RECRUITINGExternal Resources
Links to major genomics databases and tools