Gene
bckdha
- ID
- ZDB-GENE-050522-376
- Name
- branched chain keto acid dehydrogenase E1 subunit alpha
- Symbol
- bckdha Nomenclature History
- Previous Names
-
- wu:fd20d04
- zgc:110049
- Type
- protein_coding_gene
- Location
- Chr: 18 Mapping Details/Browsers
- Description
- Predicted to have alpha-ketoacid dehydrogenase activity. Predicted to be involved in branched-chain amino acid catabolic process. Predicted to localize to mitochondrial alpha-ketoglutarate dehydrogenase complex. Human ortholog(s) of this gene implicated in maple syrup urine disease. Orthologous to human BCKDHA (branched chain keto acid dehydrogenase E1 subunit alpha).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7158641 (1 image)
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 |
|---|---|---|---|
| maple syrup urine disease | Alliance | Maple syrup urine disease, type Ia | 248600 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Alpha-ketoacid dehydrogenase complex E1 component | Dehydrogenase, E1 component | Thiamin diphosphate-binding fold |
|---|---|---|---|---|
|
UniProtKB:Q4VBU0
|
446 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
bckdha-201
(1)
|
Ensembl | 2,368 nt |
Interactions and Pathways
No data available
Plasmids
No data available