Gene
pdha1b
- ID
- ZDB-GENE-040718-96
- Name
- pyruvate dehydrogenase E1 subunit alpha 1b
- Symbol
- pdha1b Nomenclature History
- Previous Names
-
- fp73b04
- wu:fp73b04
- zgc:92705 (1)
- Type
- protein_coding_gene
- Location
- Chr: 24 Mapping Details/Browsers
- Description
- Predicted to enable pyruvate dehydrogenase (acetyl-transferring) activity. Predicted to be involved in pyruvate decarboxylation to acetyl-CoA. Predicted to act upstream of or within glucose metabolic process. Predicted to be located in mitochondrial matrix. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. Orthologous to human PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1).
- 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
-
- MGC:92705 (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 |
|---|---|---|---|
| pyruvate decarboxylase deficiency | Alliance | Pyruvate dehydrogenase E1-alpha deficiency | 312170 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Additional Resources | Length | Dehydrogenase, E1 component | Pyruvate dehydrogenase (acetyl-transferring) E1 component, alpha subunit, subgroup y | Pyruvate Dehydrogenase E1 Alpha Subunit | Thiamin diphosphate-binding fold |
|---|---|---|---|---|---|---|
| UniProtKB:E7F9W7 | InterPro | 400 | ||||
| UniProtKB:Q6DGZ9 | InterPro | 393 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
pdha1b-201
(1)
|
Ensembl | 1,712 nt | ||
| mRNA |
pdha1b-202
(1)
|
Ensembl | 2,432 nt | ||
| mRNA |
pdha1b-203
(1)
|
Ensembl | 543 nt |
Interactions and Pathways
No data available
Plasmids
No data available