NEFL

GENE INFORMATION

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Gene name

NEFL (HGNC Symbol)

Synonyms

CMT1F, CMT2E, NF68, NFL, PPP1R110

Description

Neurofilament, light polypeptide (HGNC Symbol)

Entrez gene summary

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]

Chromosome

8

Cytoband

p21.2

Chromosome location (bp)

24950955 - 24957110

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000277586 (version 78.38)

Entrez gene

4747

UniProt

P07196 (UniProt - Evidence at protein level)

neXtProt

NX_P07196

Antibodypedia

NEFL antibodies
 

PROTEIN VIEW

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NEFL-001
 
NEFL-201
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

NEFL-001 ENSP00000482169
ENST00000610854
P07196
Show all »
Show » Show » 543 61.5 No 0
NEFL-201 ENSP00000483690
ENST00000619417
Show » Show » 284 32.6 No 0