Gene
nefla
- ID
- ZDB-GENE-091117-1
- Name
- neurofilament light chain 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
- Comparative Information
-
- All Expression Data
- 2 figures from Wang et al., 2018
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Wang et al., 2018
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| 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 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Intermediate filament protein, conserved site | Intermediate filament, rod domain | Intermediate filament structural protein |
|---|---|---|---|---|
|
UniProtKB:A0A8M9PUK6
|
712 |
Interactions and Pathways
No data available
Plasmids
No data available