NEFL

Description

The NEFL (neurofilament light chain) is a protein-coding gene located on chromosome 8.

NEFL, also known as neurofilament light chain (NF-L), is a key member of the intermediate filament protein family. This family comprises over 50 human proteins categorized into five classes, including neurofilaments. There are four major neurofilament subunits: NF-L, NF-M, NF-H, and α-internexin. These subunits assemble into heteropolymers, forming 10nm neurofilaments, which are found exclusively in neurons, where they serve as structural components, particularly within long axons. Axons are vulnerable to mechanical and metabolic damage, and axonal degeneration is a prevalent problem in many neurological diseases. The detection of neurofilament subunits in cerebrospinal fluid (CSF) and blood has become a standard practice for identifying ongoing axonal damage. NF-L is a biomarker that can be measured in CSF and plasma using immunoassays, reflecting axonal damage in various neurological disorders. It is a valuable marker for disease monitoring in conditions like amyotrophic lateral sclerosis (ALS), multiple sclerosis (MS), Alzheimer's disease, and more recently, Huntington's disease. It also holds promise as a marker for tracking patients with brain tumors.

NEFL, along with NEFM and NEFH, constitutes the primary components of neurofilaments, which are essential for maintaining the diameter of neurons. Additionally, NEFL may interact with other neuronal intermediate filament proteins, such as PRPH and INA, to create intricate filamentous networks within neurons.

NEFL is also known as CMT1F, CMT2E, CMTDIG, NF-L, NF68, NFL, PPP1R110.

Associated Diseases

• Charcot-Marie-Tooth disease, demyelinating, type 1F
• Charcot-Marie-Tooth disease, dominant intermediate G
• Charcot-Marie-Tooth disease type 1F
• Charcot-Marie-Tooth disease, axonal, type 2E
• Autosomal dominant Charcot-Marie-Tooth disease type 2E