The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for DBT. 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 = DBT 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 DBT, 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 |
|---|---|---|---|---|
| chr1:99,950,389–99,951,124 | 299.2 kb | Distal (>10kb) Multiome | 109 | |
| chr1:99,951,388–99,951,903 | 298.1 kb | Distal (>10kb) Multiome | 18 | |
| chr1:99,959,336–99,959,871 | 290.2 kb | Distal (>10kb) Multiome | 103 | |
| chr1:99,969,317–99,970,703 | 279.7 kb | Distal (>10kb) Multiome | 1091 | |
| chr1:100,037,569–100,039,066 | 211.7 kb | Distal (>10kb) Multiome | 979 | |
| chr1:100,048,184–100,049,196 | 201.1 kb | Distal (>10kb) Multiome | 234 | |
| chr1:100,132,347–100,133,463 | 116.8 kb | Distal (>10kb) Multiome | 947 | |
| chr1:100,249,217–100,250,325 | 75 bp | At TSS Multiome | 803 | |
| chr1:100,265,673–100,266,819 | 16.4 kb | Distal (>10kb) Multiome | 796 | |
| chr1:100,337,594–100,338,776 | 88.3 kb | Distal (>10kb) Multiome | 109 | |
| chr1:100,350,909–100,353,664 | 102.6 kb | Distal (>10kb) Multiome HiCAR | 1006 | |
| chr1:100,439,928–100,440,470 | 190.5 kb | Distal (>10kb) Multiome | 293 | |
| chr1:100,538,654–100,540,350 | 289.9 kb | Distal (>10kb) Multiome | 481 |
Genomic view of the DBT 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.