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
- Exhibits pyruvate dehydrogenase activity. Involved in pigmentation. Predicted to localize to mitochondrial pyruvate dehydrogenase complex. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. Is expressed in alar plate midbrain region; musculature system; optic tectum; optic vesicle; and pronephric duct. 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