Gene
dldh
- ID
- ZDB-GENE-040120-4
- Name
- dihydrolipoamide dehydrogenase
- Symbol
- dldh Nomenclature History
- Previous Names
-
- fb24b05
- wu:fb24b05 (1)
- Type
- protein_coding_gene
- Location
- Chr: 25 Mapping Details/Browsers
- Description
- Predicted to have dihydrolipoyl dehydrogenase activity; electron transfer activity; and flavin adenine dinucleotide binding activity. Involved in heart contraction. Human ortholog(s) of this gene implicated in maple syrup urine disease. Is expressed in several structures, including adaxial cell; digestive system; midbrain; musculature system; and retina. Orthologous to human DLD (dihydrolipoamide dehydrogenase).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7151702 (10 images)
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Keßler et al., 2015
- 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 | Dihydrolipoamide dehydrogenase deficiency | 246900 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Active_site | IPR012999 | Pyridine nucleotide-disulphide oxidoreductase, class I, active site |
| Domain | IPR004099 | Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain |
| Domain | IPR023753 | FAD/NAD(P)-binding domain |
| Family | IPR001100 | Pyridine nucleotide-disulphide oxidoreductase, class I |
| Family | IPR006258 | Dihydrolipoamide dehydrogenase |
| Family | IPR050151 | Class-I pyridine nucleotide-disulfide oxidoreductase |
| Homologous_superfamily | IPR016156 | FAD/NAD-linked reductase, dimerisation domain superfamily |
| Homologous_superfamily | IPR036188 | FAD/NAD(P)-binding domain superfamily |
Domain Details Per Protein
| Protein | Length | Class-I pyridine nucleotide-disulfide oxidoreductase | Dihydrolipoamide dehydrogenase | FAD/NAD-linked reductase, dimerisation domain superfamily | FAD/NAD(P)-binding domain | FAD/NAD(P)-binding domain superfamily | Pyridine nucleotide-disulphide oxidoreductase, class I | Pyridine nucleotide-disulphide oxidoreductase, class I, active site | Pyridine nucleotide-disulphide oxidoreductase, dimerisation domain |
|---|---|---|---|---|---|---|---|---|---|
|
UniProtKB:Q803L1
|
507 |
Interactions and Pathways
No data available
Plasmids
No data available