Gene
pdhb
- ID
- ZDB-GENE-040426-2173
- Name
- pyruvate dehydrogenase E1 subunit beta
- Symbol
- pdhb Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 22 Mapping Details/Browsers
- Description
- Enables pyruvate dehydrogenase activity. Acts upstream of or within pigmentation. Predicted to be part of mitochondrial pyruvate dehydrogenase complex. Is expressed in alar plate midbrain region; musculature system; optic tectum; optic vesicle; and pronephric duct. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. Orthologous to human PDHB (pyruvate dehydrogenase E1 subunit beta).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:64062 (6 images)
- IMAGE:6895600 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- 10 figures from 4 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| pyruvate decarboxylase deficiency | Alliance | Pyruvate dehydrogenase E1-beta deficiency | 614111 |
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 | Length | Thiamin diphosphate-binding fold | Transketolase, C-terminal domain | Transketolase C-terminal/Pyruvate-ferredoxin oxidoreductase domain II | Transketolase-like, pyrimidine-binding domain |
|---|---|---|---|---|---|
|
UniProtKB:Q7T368
|
359 |
Interactions and Pathways
No data available
Plasmids
No data available