| NEFM — Neurofilament Medium Chain | |
|---|---|
| Symbol | NEFM |
| Full Name | Neurofilament Medium Chain |
| Chromosome | 8q21.3 |
| NCBI Gene | 4741 |
| Ensembl | ENSG00000104722 |
| OMIM | 162400 |
| UniProt | P12036 |
| Diseases | ALS, Charcot-Marie-Tooth Disease, Parkinson's Disease |
| Expression | Motor neurons, Sensory neurons, Spinal cord, Brainstem, Hippocampus, Cerebral cortex |
Nefm — Neurofilament Medium Chain is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
NEFM encodes the neurofilament medium chain, a critical intermediate filament protein expressed primarily in large-diameter myelinated neurons. Neurofilaments are the major intermediate filaments in neurons and are essential for maintaining axonal caliber and conduction velocity. NEFM is crucial for axonal transport and is emerging as an important biomarker for neurodegenerative diseases.
The NEFM gene encodes the 102.5 kDa neurofilament medium polypeptide, which assembles with neurofilament light chain (NEFL) and heavy chain (NEFH) to form the neuronal intermediate filament cytoskeleton. Neurofilaments are the most abundant cytoskeletal proteins in large myelinated axons and are essential for:
NEFM is highly expressed in:
NEFM mutations are linked to ALS and ALS-like disorders. Neurofilament accumulation in motor neurons is a hallmark of ALS pathology, and elevated NEFM in cerebrospinal fluid and blood serves as a biomarker for disease progression [1].
NEFM mutations cause forms of Charcot-Marie-Tooth disease (CMT), particularly the demyelinating subtype (CMT2), affecting peripheral nerve function [2].
Neurofilament markers are elevated in some PD patients, particularly those with atypical parkinsonism. NEFM can serve as a biomarker for disease progression [3].
The study of Nefm — Neurofilament Medium Chain has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.