AlphaFold predicted structure
DLAT · P10515
Mean pLDDT
72.0/ 100
Confident
647 residues
Confidence breakdown
- Very high(≥ 90)26%
- Confident(70–90)39%
- Low(50–70)9%
- Very low(< 50)26%
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AlphaFold (Jumper et al., 2021) · CC BY 4.0
DLAT
Chr 11q23.1dihydrolipoamide S-acetyltransferase
- Aliases:
- PDC-E2, E2
- MANE:
- ENST00000280346.11
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 pseudoautosomalEarly onset dystonia
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 pseudoautosomalStructural basal ganglia disorders
BIALLELIC, autosomal or pseudoautosomal
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Disease associations (Open Targets)
pyruvate dehydrogenase E2 deficiency
0.79pyruvate dehydrogenase deficiency
0.71Dystonia
0.37hereditary disease
0.34neurodegenerative disease
0.32Leigh syndrome
0.23Familial prostate cancer
0.11prostate cancer
0.11hepatocellular carcinoma
0.11cancer
0.10
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex, mitochondrial
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). Within this complex, the catalytic function of this enzyme is to accept, and to transfer to coenzyme A, acetyl groups from acetyl-lipoyl moiety generated by the pyruvate dehydrogenase, leading to acetyl-CoA formation (Probable)