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Description for Protein DLD

dihydrolipoamide dehydrogenase
4 total interacting proteins; 3 platelet interacting proteins
Icon Book Platelet Evidence (proteome studies/others : 2/1)
(microparticles: 1; platelet: 1; secretome: 1)
Summary:
This gene encodes the L protein of the mitochondrial glycine cleavage system. The L protein, also named dihydrolipoamide dehydrogenase, is also a component of the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acide dehydrogenase complex. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. [provided by RefSeq] (PubMed Links)
Domains and Motifs:
None Available
Gene Ontology:
Gene Ontology Annotations
KEGG - Enzyme ID(s):
1.8.1.4
KEGG - Orthology:
K00382
KEGG - Pathway(s):
hsa00010; hsa00020; hsa00260; hsa00280; hsa00620; hsa01100
(The yellow boxes represents platelet proteins)
Nomenclature / Alternative Names:
Dihydrolipoamide dehydrogenase; PHE3; LAD; GCSL; E3 component of pyruvate dehydrogenase; DLDH; E3
Approved Symbol:
DLD
(De-) Phosphorylations:
Total (de-) phosphorylation sites: 2
Human (de-) phosphorylation sites: 2; No platelet phosphorylation sites
Phosphorylation Targets:
Total phosphorylation targets: 0
Human phosphorylation targets: 0;Predicted platelet targets: 0
Protein Characteristics:
Isoform-specific Information
Icon DrugsAssociated Drugs (DrugBank Accession):

  • Flavin-Adenine Dinucleotide(db);
  • NADH(db);
  • Nicotinamide-Adenine-Dinucleotide(db)

    Associated Genetic Diseases:

  • Maple syrup urine disease, type III(Pd)
    		• Predicted Transmembrane Domains:
  • Isoform 1 : 0
    • Additional Identifiers:

    HPRD: 02006 Entrez Gene ID: 1738 OMIM ID: 238331 Swissprot Accession: P09622;