ZFIN is now using GRCz12tu for Genomic Data
Gene
bckdhb
- ID
- ZDB-GENE-030124-2
- Name
- branched chain keto acid dehydrogenase E1 subunit beta
- Symbol
- bckdhb Nomenclature History
- Previous Names
-
- zgc:158777
- Type
- protein_coding_gene
- Location
- Chr: 16 Mapping Details/Browsers
- Genome Assembly
- GRCz12tu
- Annotation Status
- Current
- Description
- Predicted to enable branched-chain 2-oxo acid dehydrogenase activity. Predicted to be involved in branched-chain amino acid catabolic process and response to nutrient. Predicted to be located in mitochondrial matrix. Predicted to be part of branched-chain alpha-ketoacid dehydrogenase complex. Human ortholog(s) of this gene implicated in maple syrup urine disease and maple syrup urine disease type IB. Orthologous to human BCKDHB (branched chain keto acid dehydrogenase E1 subunit beta).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7155092 (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 type IB | Alliance | Maple syrup urine disease, type Ib | 620698 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR005475 | Transketolase-like, pyrimidine-binding domain |
| Domain | IPR033248 | Transketolase, C-terminal domain |
| Homologous_superfamily | IPR009014 | Transketolase C-terminal/Pyruvate-ferredoxin oxidoreductase domain II |
| Homologous_superfamily | IPR029061 | Thiamin diphosphate-binding fold |
Domain Details Per Protein
| Protein | Additional Resources | Length | Thiamin diphosphate-binding fold | Transketolase, C-terminal domain | Transketolase C-terminal/Pyruvate-ferredoxin oxidoreductase domain II | Transketolase-like, pyrimidine-binding domain |
|---|---|---|---|---|---|---|
| UniProtKB:A1L2C0 | InterPro | 391 |
- Genome Browsers
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
bckdhb-201
(1)
|
Ensembl | 1,509 nt | ||
| mRNA |
bckdhb-202
(1)
|
Ensembl | 209 nt | ||
| mRNA |
bckdhb-203
(1)
|
Ensembl | 2,341 nt | ||
| mRNA |
bckdhb-204
(1)
|
Ensembl | 1,956 nt |
Interactions and Pathways
No data available
Plasmids
No data available
- Genome Browsers