The branched-chain alpha-keto acid (BCAA) dehydrogenase (BCKD) complex is an innter mitochondrial enzyme complex that catalyzes the second major step in the catabolism of the branched-chain amino acids leucine, isoleucine, and valine. The BCKD complex consists of three catalytic components: a heterotetrameric (alpha2-beta2) branched-chain alpha-keto acid decarboxylase (E1), a dihydrolipoyl transacylase (E2), and a dihydrolipoamide dehydrogenase (E3). This gene encodes the alpha subunit of the decarboxylase (E1) component. Mutations in this gene result in maple syrup urine disease, type IA. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Transcription factors with Perturb-seq knockdown data for BCKDHA. 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 = BCKDHA 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 BCKDHA, 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 |
|---|---|---|---|---|
| chr19:41,175,862–41,176,466 | 221.6 kb | Distal (>10kb) Multiome | 330 | |
| chr19:41,192,831–41,193,504 | 204.6 kb | Distal (>10kb) Multiome | 377 | |
| chr19:41,218,771–41,219,447 | 178.8 kb | Distal (>10kb) Multiome | 345 | |
| chr19:41,262,152–41,262,839 | 135.4 kb | Distal (>10kb) Multiome | 787 | |
| chr19:41,262,983–41,265,249 | 133.7 kb | Distal (>10kb) Multiome | 1022 | |
| chr19:41,309,685–41,310,764 | 87.6 kb | Distal (>10kb) Multiome | 1016 | |
| chr19:41,324,382–41,326,571 | 72.6 kb | Distal (>10kb) Multiome | 670 | |
| chr19:41,351,173–41,351,794 | 46.4 kb | Distal (>10kb) Multiome | 465 | |
| chr19:41,352,533–41,354,401 | 43.8 kb | Distal (>10kb) Multiome | 807 | |
| chr19:41,363,475–41,364,733 | 33.7 kb | Distal (>10kb) Multiome | 774 | |
| chr19:41,376,421–41,376,995 | 21.1 kb | Distal (>10kb) Multiome | 379 | |
| chr19:41,397,079–41,398,056 | 277 bp | At TSS Multiome | 849 | |
| chr19:41,406,970–41,407,622 | 9.5 kb | Proximal (<10kb) Multiome | 88 | |
| chr19:41,426,905–41,428,213 | 29.7 kb | Distal (>10kb) Multiome | 512 | |
| chr19:41,439,463–41,440,163 | 42.0 kb | Distal (>10kb) Multiome | 765 | |
| chr19:41,548,798–41,549,566 | 151.4 kb | Distal (>10kb) Multiome | 212 | |
| chr19:41,563,228–41,563,884 | 165.7 kb | Distal (>10kb) Multiome | 419 |
Genomic view of the BCKDHA 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.