This gene encodes component E2 of the multi-enzyme pyruvate dehydrogenase complex (PDC). PDC resides in the inner mitochondrial membrane and catalyzes the conversion of pyruvate to acetyl coenzyme A. The protein product of this gene, dihydrolipoamide acetyltransferase, accepts acetyl groups formed by the oxidative decarboxylation of pyruvate and transfers them to coenzyme A. Dihydrolipoamide acetyltransferase is the antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC enventually leads to cirrhosis and liver failure. Mutations in this gene are also a cause of pyruvate dehydrogenase E2 deficiency which causes primary lactic acidosis in infancy and early childhood.[provided by RefSeq, Oct 2009]
Transcription factors with Perturb-seq knockdown data for DLAT. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = DLAT upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of DLAT, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr11:111,765,276–111,766,937 | 259.0 kb | Distal (>10kb) Multiome | 726 | |
| chr11:111,784,858–111,785,661 | 240.1 kb | Distal (>10kb) Multiome | 164 | |
| chr11:111,870,839–111,871,692 | 154.1 kb | Distal (>10kb) Multiome | 781 | |
| chr11:111,878,459–111,879,798 | 146.2 kb | Distal (>10kb) Multiome | 970 | |
| chr11:111,918,534–111,919,259 | 106.5 kb | Distal (>10kb) Multiome | 468 | |
| chr11:111,926,372–111,927,689 | 98.3 kb | Distal (>10kb) Multiome | 767 | |
| chr11:111,936,752–111,938,016 | 88.1 kb | Distal (>10kb) Multiome | 671 | |
| chr11:111,960,703–111,961,374 | 64.4 kb | Distal (>10kb) Multiome | 192 | |
| chr11:111,976,357–111,978,029 | 48.2 kb | Distal (>10kb) Multiome | 293 | |
| chr11:111,982,641–111,983,482 | 42.1 kb | Distal (>10kb) Multiome | 290 | |
| chr11:112,024,495–112,025,893 | 251 bp | At TSS Multiome | 1024 | |
| chr11:112,073,749–112,074,754 | 48.8 kb | Distal (>10kb) Multiome | 828 | |
| chr11:112,086,268–112,087,320 | 61.4 kb | Distal (>10kb) Multiome | 883 | |
| chr11:112,225,928–112,226,959 | 201.1 kb | Distal (>10kb) Multiome | 809 | |
| chr11:112,289,677–112,290,832 | 264.8 kb | Distal (>10kb) Multiome | 568 |
Genomic view of the DLAT locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.