Tbio NEFL Neurofilament light polypeptide

Protein Summary

Description

Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber. 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]

Uniprot Accession IDs

• P07196
• B9ZVN2
• Q16154
• Q8IU72
• NF-L

Gene Name

• NEFL

Ensembl ID

• ENST00000610854
• ENSP00000482169
• ENSG00000277586

Symbol

• NF68
• NFL
• NFL
• NF-L
• NF68
• CMT1F
• CMT2E
• CMTDIG
• PPP1R110

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
gene perturbation	0.97
hub protein	0.97
PubMedID	0.91
biological process	0.9
kinase	0.78

Protein Classes

No PANTHER Classes or DTO Classes found

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 3193.22   (req: < 5)

Gene RIFs: 185   (req: <= 3)

Antibodies: 947   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 3193.22   (req: >= 5)

Gene RIFs: 185   (req: > 3)

Antibodies: 947   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 34

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0