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
- Is predicted to enable dihydrolipoyl dehydrogenase activity and flavin adenine dinucleotide binding activity. Acts upstream of or within heart contraction. Predicted to be located in acrosomal vesicle and motile cilium. Predicted to be part of oxoglutarate dehydrogenase complex. Is expressed in several structures, including adaxial cell; digestive system; midbrain; musculature system; and retina. Human ortholog(s) of this gene implicated in maple syrup urine disease. 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 |
| 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 | 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 | |||||||
|
UniProtKB:Q6TNU6
|
507 |
Interactions and Pathways
No data available
Plasmids
No data available