Gene
klhl41a
- ID
- ZDB-GENE-081105-22
- Name
- kelch-like family member 41a
- Symbol
- klhl41a Nomenclature History
- Previous Names
-
- kbtbd10a
- si:dkey-211m23.4
- Type
- protein_coding_gene
- Location
- Chr: 9 Mapping Details/Browsers
- Description
- Involved in sarcomere organization and skeletal muscle fiber development. Predicted to localize to cytoskeleton and sarcoplasmic reticulum membrane. Human ortholog(s) of this gene implicated in nemaline myopathy 9. Is expressed in brain; eye; heart; muscle; and somite. Orthologous to human KLHL41 (kelch like family member 41).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 2 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 4 figures from Gupta 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 9 | Alliance | Nemaline myopathy 9 | 615731 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | BTB/Kelch-associated | BTB-kelch protein | BTB/POZ domain | Kelch repeat type 1 | Kelch-type beta propeller | SKP1/BTB/POZ domain superfamily |
|---|---|---|---|---|---|---|---|
|
UniProtKB:E9QIN8
|
599 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
klhl41a-201
(1)
|
Ensembl | 2,313 nt |
Interactions and Pathways
No data available
Plasmids
No data available