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 enable 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity. Predicted to be involved in branched-chain amino acid catabolic process. Predicted to be part of mitochondrial alpha-ketoglutarate dehydrogenase complex. Is expressed in liver and muscle. 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