DLAT Gene: Dihydrolipoamide S-Acetyltransferase
Essential component of the pyruvate dehydrogenase complex; mutations cause pyruvate dehydrogenase E2 deficiency.
Gene Information Card
| Symbol | DLAT |
|---|---|
| Full Name | Dihydrolipoamide S-Acetyltransferase |
| Gene Type | Protein coding |
| Chromosomal Location | 11q23.1 |
| NCBI Gene ID | 1737 ncbi.nlm.nih.gov/gene/1737 |
| Ensembl ID | ENSG00000150768 |
| UniProt ID | P10515 |
| OMIM ID | 608770 |
| HGNC ID | 2896 |
| Aliases | DLTA, PDC-E2 |
Description
The DLAT gene encodes the E2 component (dihydrolipoamide S-acetyltransferase) of the pyruvate dehydrogenase complex (PDC), a mitochondrial multienzyme complex that links glycolysis to the TCA cycle by converting pyruvate to acetyl-CoA. DLAT is essential for energy metabolism, particularly in glucose-oxidizing tissues. Mutations in DLAT cause pyruvate dehydrogenase E2 deficiency, a rare inborn error of metabolism leading to lactic acidosis and neurological dysfunction.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Pyruvate dehydrogenase E2 deficiency | Mutations in DLAT impair the acetyltransferase activity of the E2 component, reducing overall PDC activity, leading to accumulation of pyruvate and lactic acidosis, and impaired ATP production. | OMIM #608770; ClinVar entries with pathogenic variants. |
| Lactic acidosis | Deficient PDC activity causes anaerobic metabolism and lactate accumulation, especially after carbohydrate load. | Clinical observations in PDH deficiency patients. |
| Leigh syndrome | Some DLAT mutations cause Leigh-like syndrome due to mitochondrial dysfunction and neurodegeneration. | Case reports in literature; OMIM. |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 20.1 | High |
| Skeletal Muscle | 15.3 | High |
| Liver | 10.2 | Medium |
| Brain | 8.5 | Medium |
| Kidney | 7.8 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 12.5 | Liver cancer cell line; high expression |
| K562 | 9.8 | Leukemia cell line; moderate expression |
| HeLa | 8.2 | Cervical cancer cell line; moderate expression |
| A549 | 7.1 | Lung carcinoma; moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1135C>T (p.Arg379Ter) | Nonsense | Rare | Loss of function; truncated protein lacking catalytic domain. |
| c.904C>T (p.Arg302Cys) | Missense | Rare | Reduced acetyltransferase activity. |
| c.1132G>A (p.Glu378Lys) | Missense | Rare | Impairs subunit interaction. |
Mutation functional classification
Loss of Function (LOF)
Most pathogenic DLAT mutations are loss-of-function, reducing PDC activity.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by disrupting the multimeric complex.
View complete mutation data：
Gene Ontology (GO)
| • dihydrolipoyllysine-residue acetyltransferase activity | • pyruvate dehydrogenase (acetyl-transferring) activity |
| • mitochondrial matrix | • pyruvate metabolic process |
| • acetyl-CoA biosynthetic process |
Pathways
• Pyruvate metabolism
• TCA cycle
• Glycolysis (upstream)
Protein Summary
The DLAT protein (E2) is a 67 kDa subunit of the pyruvate dehydrogenase complex. It contains an N-terminal lipoyl domain, a peripheral subunit-binding domain, and a C-terminal catalytic domain. The E2 component catalyzes the transfer of acetyl groups from lipoamide to coenzyme A, forming acetyl-CoA. It forms a 60-mer icosahedral core that scaffolds other PDC components. Post-translational modifications include phosphorylation and acetylation, which regulate activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DLAT Knockout HEK293 Cell Line | EDJ-KQ3308 | Human | 1737 | Details Get a Quote |
| DLAT Knockout HCT 116 Cell Line | EDJ-KQ23515 | Human | 1737 | Details Get a Quote |
| DLAT Knockout A-549 Cell Line | EDJ-KQ24901 | Human | 1737 | Details Get a Quote |
| DLAT Knockout HeLa Cell Line | EDJ-KQ24903 | Human | 1737 | Details Get a Quote |
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