Gene

nefla

ID
ZDB-GENE-091117-1
Name
neurofilament, light polypeptide a
Symbol
nefla Nomenclature History
Previous Names
  • si:ch211-222n4.10 (1)
Type
protein_coding_gene
Location
Chr: 21 Mapping Details/Browsers
Description
Predicted to localize to intermediate filament. Is expressed in nervous system. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease (multiple); amyotrophic lateral sclerosis; and invasive ductal carcinoma. Orthologous to human NEFL (neurofilament light).
Genome Resources
Note
None
Expression
All Expression Data
2 figures from Wang et al., 2018
Cross-Species Comparison
High Throughput Data
No data available
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Wang et al., 2018
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With nefla Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Charcot-Marie-Tooth disease dominant intermediate G Alliance Charcot-Marie-Tooth disease, dominant intermediate G 617882
Charcot-Marie-Tooth disease type 1F Alliance Charcot-Marie-Tooth disease, type 1F 607734
Charcot-Marie-Tooth disease type 2E Alliance Charcot-Marie-Tooth disease, type 2E 607684
Associated With nefla Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR018039 Intermediate filament protein, conserved site
Domain IPR039008 Intermediate filament, rod domain
Homologous_superfamily IPR042180 Intermediate filament, rod domain, coil 1B
Domain Details Per Protein
Protein Length Intermediate filament protein, conserved site Intermediate filament, rod domain Intermediate filament, rod domain, coil 1B
UniProtKB:E9QFD5 616
UniProtKB:E7F9E8 390
UniProtKB:A0A286Y951 520
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Gene Tree
Ensembl
Citations