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 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. Predicted to be active in mitochondrion. 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
Expression
All Expression Data
6 figures from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from Ke├čler et al., 2015
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With dldh Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
maple syrup urine disease Alliance Dihydrolipoamide dehydrogenase deficiency 246900
Associated With dldh Via Experimental Models
No data available
Gene Ontology
Protein Domains
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
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations