This gene encodes a member of the short-chain dehydrogenase/reductase gene family. The encoded protein forms a homotetrameric lipid-requiring enzyme of the mitochondrial membrane and has a specific requirement for phosphatidylcholine for optimal enzymatic activity. The encoded protein catalyzes the interconversion of acetoacetate and (R)-3-hydroxybutyrate, the two major ketone bodies produced during fatty acid catabolism. Alternatively spliced transcript variants encoding the same protein have been described. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for BDH1. 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 = BDH1 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 BDH1, 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 |
|---|---|---|---|---|
| chr3:197,297,490–197,299,437 | 257.7 kb | Distal (>10kb) Multiome | 941 | |
| chr3:197,464,855–197,465,525 | 90.8 kb | Distal (>10kb) Multiome | 302 | |
| chr3:197,509,884–197,510,593 | 45.7 kb | Distal (>10kb) Multiome | 656 | |
| chr3:197,527,591–197,529,092 | 27.6 kb | Distal (>10kb) Multiome | 184 | |
| chr3:197,540,773–197,541,383 | 14.9 kb | Distal (>10kb) Multiome HiCAR | 172 | |
| chr3:197,541,675–197,542,327 | 14.0 kb | Distal (>10kb) Multiome | 188 | |
| chr3:197,547,230–197,547,930 | 8.4 kb | Proximal (<10kb) Multiome | 223 | |
| chr3:197,554,469–197,556,297 | 176 bp | At TSS Multiome | 577 | |
| chr3:197,573,028–197,573,650 | 17.3 kb | Distal (>10kb) Multiome | 442 | |
| chr3:197,736,285–197,737,626 | 181.0 kb | Distal (>10kb) Multiome | 760 | |
| chr3:197,749,348–197,750,809 | 193.7 kb | Distal (>10kb) Multiome | 787 | |
| chr3:197,790,656–197,791,971 | 235.3 kb | Distal (>10kb) Multiome | 906 |
Genomic view of the BDH1 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.