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
- Acts upstream of or within muscle cell development; regulation of sarcomere organization; and swimming behavior. Predicted to be located in cytoskeleton and sarcoplasmic reticulum membrane. Is expressed in brain; eye; heart; muscle; and somite. Human ortholog(s) of this gene implicated in nemaline myopathy 9. 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