Gene
klhl40b
- ID
- ZDB-GENE-060227-1
- Name
- kelch-like family member 40b
- Symbol
- klhl40b Nomenclature History
- Previous Names
-
- kbtbd5b
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Involved in skeletal muscle fiber development and swimming. Predicted to localize to Cul3-RING ubiquitin ligase complex and cytoplasm. Human ortholog(s) of this gene implicated in nemaline myopathy 8. Is expressed in eye; fin; skeletal muscle; and somite. Orthologous to human KLHL40 (kelch like family member 40).
- Genome Resources
- Note
- None
- Comparative Information
- All Expression Data
- 2 figures from Ravenscroft et al., 2013
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 2 figures from Ravenscroft et al., 2013
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
---|---|---|---|
nemaline myopathy 8 | Alliance | Nemaline myopathy 8, autosomal recessive | 615348 |
Domain, Family, and Site Summary
No data available
Domain Details Per Protein
No data available
Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
---|---|---|---|---|---|
mRNA |
klhl40b-201
(1)
|
Ensembl | 1,904 nt |
Interactions and Pathways
No data available
Plasmids
No data available