The protein encoded by this gene belongs to the HMG-CoA lyase family. It is a mitochondrial enzyme that catalyzes the final step of leucine degradation and plays a key role in ketone body formation. Mutations in this gene are associated with HMG-CoA lyase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]
Transcription factors with Perturb-seq knockdown data for HMGCL. 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 = HMGCL 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 HMGCL, 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 |
|---|---|---|---|---|
| chr1:23,530,568–23,531,711 | 294.1 kb | Distal (>10kb) Multiome | 775 | |
| chr1:23,539,704–23,540,280 | 285.4 kb | Distal (>10kb) Multiome | 668 | |
| chr1:23,554,367–23,556,627 | 270.5 kb | Distal (>10kb) Multiome | 961 | |
| chr1:23,558,135–23,559,925 | 265.9 kb | Distal (>10kb) Multiome | 932 | |
| chr1:23,598,114–23,599,073 | 226.8 kb | Distal (>10kb) Multiome | 329 | |
| chr1:23,691,587–23,692,258 | 133.6 kb | Distal (>10kb) Multiome | 876 | |
| chr1:23,742,958–23,744,137 | 82.1 kb | Distal (>10kb) Multiome | 802 | |
| chr1:23,777,908–23,778,814 | 47.1 kb | Distal (>10kb) Multiome | 849 | |
| chr1:23,790,777–23,791,448 | 34.3 kb | Distal (>10kb) Multiome | 637 | |
| chr1:23,799,493–23,801,538 | 24.6 kb | Distal (>10kb) Multiome | 922 | |
| chr1:23,825,075–23,825,633 | 26 bp | At TSS Multiome | 867 | |
| chr1:23,867,741–23,868,918 | 42.9 kb | Distal (>10kb) Multiome | 766 | |
| chr1:23,958,982–23,960,271 | 134.4 kb | Distal (>10kb) Multiome | 1051 | |
| chr1:23,979,815–23,981,031 | 154.9 kb | Distal (>10kb) Multiome | 1078 | |
| chr1:23,998,624–23,999,076 | 173.5 kb | Distal (>10kb) Multiome | 19 |
Genomic view of the HMGCL 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.