Gene
kbtbd13a
- ID
- ZDB-GENE-140106-122
- Name
- kelch repeat and BTB domain containing 13a
- Symbol
- kbtbd13a Nomenclature History
- Previous Names
-
- kbtbd13
- zmp:0000001162 (1)
- Type
- protein_coding_gene
- Location
- Chr: 7 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in nemaline myopathy 6. Orthologous to human KBTBD13 (kelch repeat and BTB domain containing 13).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| nemaline myopathy 6 | Alliance | Nemaline myopathy 6, autosomal dominant | 609273 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | BTB/POZ domain | Kelch repeat type 1 | Kelch-type beta propeller | SKP1/BTB/POZ domain superfamily |
|---|---|---|---|---|---|
|
UniProtKB:A0A8M1PS76
|
493 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
kbtbd13-201
(1)
|
Havana | 1422 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Comparative Orthology
- Alliance