Gene
neflb
- ID
- ZDB-GENE-060312-44
- Name
- neurofilament light chain b
- Symbol
- neflb Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have structural molecule activity. Involved in hindbrain development; negative regulation of neuron apoptotic process; and spinal cord development. Predicted to localize to neurofilament. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease (multiple); amyotrophic lateral sclerosis; and invasive ductal carcinoma. Is expressed in nervous system. Orthologous to human NEFL (neurofilament light).
- Genome Resources
- Note
-
neflb exhibits a splice variant specific phenotype on motor neuron development as described in Demy et al, 2020.
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
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 head, DNA-binding domain | Intermediate filament protein, conserved site | Intermediate filament, rod domain | Intermediate filament structural protein | Keratin, type I |
|---|---|---|---|---|---|---|
|
UniProtKB:Q29RE8
|
579 |
Interactions and Pathways
No data available
Plasmids
No data available