Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
|
| gptkbp:alternativeName |
gptkb:NFL
68 kDa neurofilament protein |
| gptkbp:associatedWith |
gptkb:Charcot-Marie-Tooth_disease
|
| gptkbp:encodes |
neurofilament light chain
|
| gptkbp:Entrez_Gene_ID |
4747
ENSG00000277586 |
| gptkbp:expressedIn |
central nervous system
peripheral nervous system |
| gptkbp:foundIn |
neurons
|
| gptkbp:fullName |
Neurofilament light polypeptide
|
| gptkbp:function |
structural component of neuronal cytoskeleton
|
| gptkbp:gene |
gptkb:NEFL
|
| gptkbp:HGNC_ID |
7739
|
| https://www.w3.org/2000/01/rdf-schema#label |
NEFL
|
| gptkbp:locatedOnChromosome |
8p21
|
| gptkbp:mutationAssociatedWith |
peripheral neuropathy
|
| gptkbp:OMIM |
162280
|
| gptkbp:orthologInMouse |
Nefl
|
| gptkbp:proteinFamily |
intermediate filament proteins
|
| gptkbp:UniProtID |
P07196
|
| gptkbp:bfsParent |
gptkb:CMT2
|
| gptkbp:bfsLayer |
7
|