AlphaFold predicted structure
DLD · P09622
Mean pLDDT
94.0/ 100
Very high
509 residues
Confidence breakdown
- Very high(≥ 90)92%
- Confident(70–90)1%
- Low(50–70)0%
- Very low(< 50)7%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
DLD
Chr 7q31.1dihydrolipoamide dehydrogenase
- Aliases:
- DLDH, E3, OGDC-E3
- MANE:
- ENST00000205402.10
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Childhood onset dystonia, chorea or related movement disorder
BIALLELIC, autosomal or pseudoautosomalDDG2P
BIALLELIC, autosomal or pseudoautosomalIntellectual disability
BIALLELIC, autosomal or pseudoautosomalLikely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomalMitochondrial disorders
BIALLELIC, autosomal or pseudoautosomalPossible mitochondrial disorder - nuclear genes
BIALLELIC, autosomal or pseudoautosomalPyruvate dehydrogenase (PDH) deficiency
BIALLELIC, autosomal or pseudoautosomalUndiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
pyruvate dehydrogenase E3 deficiency
0.84Leigh syndrome
0.64pyruvate dehydrogenase deficiency
0.52neurodegenerative disease
0.48inflammatory bowel disease
0.48hereditary disease
0.47ulcerative colitis
0.42Alzheimer disease
0.40Parkinson disease
0.39multiple sclerosis
0.39
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Dihydrolipoyl dehydrogenase, mitochondrial
Lipoamide dehydrogenase is a component of the glycine cleavage system as well as an E3 component of three alpha-ketoacid dehydrogenase complexes (pyruvate-, alpha-ketoglutarate-, and branched-chain amino acid-dehydrogenase complex) (PubMed:15712224, PubMed:16442803, PubMed:16770810, PubMed:17404228, PubMed:20160912, PubMed:20385101). The 2-oxoglutarate dehydrogenase complex is mainly active in the mitochondrion (PubMed:29211711). A fraction of the 2-oxoglutarate dehydrogenase complex also localizes in the nucleus and is required for lysine succinylation of histones: associates with KAT2A on chromatin and provides succinyl-CoA to histone succinyltransferase KAT2A (PubMed:29211711). In monomeric form may have additional moonlighting function as serine protease (PubMed:17404228). Involved in the hyperactivation of spermatazoa during capacitation and in the spermatazoal acrosome reaction (By similarity). The pyruvate dehydrogenase (PDH) complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links cytoplasmic glycolysis and the mitochondrial tricarboxylic acid (TCA) cycle (Probable). It contains multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and dihydrolipoamide dehydrogenase (E3) (Probable). The E3 subunit catalyzes reoxidation of the dihydrolipoyl moiety on lipoyl-bearing domains (LBDs) of E2 with NAD+ as the ultimate electron acceptor (PubMed:16442803, PubMed:16770810, PubMed:20160912, PubMed:20385101)