This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Transcription factors with Perturb-seq knockdown data for BCKDHB. 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 = BCKDHB 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 BCKDHB, 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 |
|---|---|---|---|---|
| chr6:79,869,214–79,870,099 | 236.9 kb | Distal (>10kb) Multiome | 584 | |
| chr6:79,946,362–79,948,249 | 159.1 kb | Distal (>10kb) Multiome | 553 | |
| chr6:80,003,546–80,005,540 | 102.1 kb | Distal (>10kb) Multiome | 751 | |
| chr6:80,105,995–80,107,273 | 62 bp | At TSS Multiome | 842 | |
| chr6:80,162,998–80,164,431 | 57.3 kb | Distal (>10kb) Multiome | 331 | |
| chr6:81,622,956–81,623,908 | 1516.8 kb | Distal (>10kb) Multiome HiCAR | 131 | |
| chr6:81,751,362–81,754,397 | 1647.2 kb | Distal (>10kb) Multiome HiCAR | 1026 |
Genomic view of the BCKDHB 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.