The protein encoded by this gene belongs to the biotin and lipoic acid synthetases family. Localized in the mitochondrion, this iron-sulfur enzyme catalyzes the final step in the de novo pathway for the biosynthesis of lipoic acid, a potent antioxidant. The deficient expression of this enzyme has been linked to conditions such as diabetes, atherosclerosis and neonatal-onset epilepsy. Alternative splicing occurs at this locus, and several transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Aug 2020]
Transcription factors with Perturb-seq knockdown data for LIAS. 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 = LIAS 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 LIAS, 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 |
|---|---|---|---|---|
| chr4:39,181,955–39,183,542 | 276.7 kb | Distal (>10kb) Multiome | 644 | |
| chr4:39,365,894–39,366,933 | 92.7 kb | Distal (>10kb) Multiome | 1045 | |
| chr4:39,446,525–39,447,613 | 12.0 kb | Distal (>10kb) Multiome | 443 | |
| chr4:39,458,264–39,459,604 | 132 bp | At TSS Multiome | 1000 | |
| chr4:39,526,691–39,528,369 | 68.5 kb | Distal (>10kb) Multiome | 1061 | |
| chr4:39,558,019–39,558,995 | 99.3 kb | Distal (>10kb) Multiome | 500 | |
| chr4:39,635,065–39,635,553 | 176.2 kb | Distal (>10kb) Multiome | 157 | |
| chr4:39,637,938–39,639,954 | 179.9 kb | Distal (>10kb) Multiome | 976 | |
| chr4:39,697,357–39,698,855 | 239.0 kb | Distal (>10kb) Multiome | 866 |
Genomic view of the LIAS 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.