Nfasc — Neurofascin plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
| NFASC — Neurofascin | |
|---|---|
| Gene Symbol | NFASC |
| Full Name | Neurofascin |
| Chromosome | 1q32.1 |
| NCBI Gene ID | 4764 |
| OMIM | 609014 |
| Ensembl ID | ENSG00000163508 |
| UniProt | Q14807 |
| Protein Name | Neurofascin |
| Protein Length | 1245 amino acids (isoform 1) |
| Molecular Weight | ~140-180 kDa (depending on isoform) |
| Brain Expression | High in brain, particularly in axons and myelin |
| Associated Diseases | Charcot-Marie-Tooth Disease, Multiple Sclerosis, ALS |
NFASC (Neurofascin) is a member of the L1 family of cell adhesion molecules (L1-CAMs). Neurofascin is a critical regulator of axon guidance, node of Ranvier formation, and synapse formation in the nervous system. NFASC mutations cause inherited peripheral neuropathies (Charcot-Marie-Tooth disease) and encephalopathies, while altered neurofascin expression is implicated in multiple sclerosis (MS), amyotrophic lateral sclerosis (ALS), and other neurodegenerative conditions.
The NFASC gene is located on chromosome 1q32.1 and consists of approximately 35 exons spanning about 80 kb of genomic DNA. The gene undergoes alternative splicing to produce multiple isoforms with distinct functions.
NFASC produces multiple isoforms:
NFASC is expressed predominantly in the nervous system:
Expression data from the Allen Human Brain Atlas shows high NFASC expression in:
Neurofascin belongs to the L1 family of immunoglobulin superfamily cell adhesion molecules (IgSF CAMs), which includes:
The neurofascin protein contains:
Extracellular domain:
Transmembrane domain: Single-pass membrane anchor
Cytoplasmic domain: Ankyrin-binding site, involved in cytoskeletal interactions
During development, neurofascin mediates:
Neurofascin is essential for node of Ranvier formation:
The nodal complex includes:
In the central nervous system:
Neurofascin contributes to:
NFASC mutations cause a subtype of CMT (CMT2):
| Mutation Type | Phenotype |
|---|---|
| Missense | Mild CMT2 |
| Nonsense/Frameshift | Severe encephalopathy |
| splice-site | Variable |
In MS lesions:
NFASC is being investigated as a biomarker for:
NFASC is implicated in ALS:
In neurodegenerative diseases:
NFASC deficiency leads to:
In MS and other conditions:
NFASC represents a therapeutic target:
NFASC in cerebrospinal fluid may serve as:
Nfasc — Neurofascin plays an important role in the study of neurodegenerative diseases. This page provides comprehensive information about this topic, including its mechanisms, significance in disease processes, and therapeutic implications.
The study of Nfasc — Neurofascin 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.