neurofilament light chain

Summary
Gene Symbol
  • NEFL
Organism
Homo sapiens (human)
NCBI Gene
4747
PubChem
4747
Alliance of Genome Resources
Annotation
Keyword
  • Acetylation
  • Cell projection
  • Charcot-Marie-Tooth disease
  • Coiled coil
  • Cytoskeleton
  • Direct protein sequencing
  • Disease variant
  • Glycoprotein
  • Intermediate filament
  • Methylation
  • Neurodegeneration
  • Phosphoprotein
  • Reference proteome
  • Ubl conjugation
Proteins
Displaying 1 entry
UniProt Protein Name
P07196
  • 68 kDa neurofilament protein
  • Neurofilament triplet L protein
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Keratin
Functional Category
  • E: Amino acid transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying entries 1 - 10 of 29 in total
DO ID Disease Name Source
DOID:3213 demyelinating disease
DOID:0050328 congenital hypothyroidism
DOID:0050433 fatal familial insomnia
DOID:0080294 Charcot-Marie-Tooth disease dominant intermediate G
DOID:0080600 COVID-19
DOID:0080832 mild cognitive impairment
DOID:0110149 Charcot-Marie-Tooth disease type 1F
DOID:0110165 Charcot-Marie-Tooth disease type 2E
DOID:10595 Charcot-Marie-Tooth disease
DOID:10652 Alzheimer's disease

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024