This gene encodes a membrane-bound protein which is a member of the ELO family, proteins which participate in the biosynthesis of fatty acids. Consistent with the expression of the encoded protein in photoreceptor cells of the retina, mutations and small deletions in this gene are associated with Stargardt-like macular dystrophy (STGD3) and autosomal dominant Stargardt-like macular dystrophy (ADMD), also referred to as autosomal dominant atrophic macular degeneration. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for ELOVL4. 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 = ELOVL4 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 ELOVL4, 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 |
|---|---|---|---|---|
| chr6:79,777,822–79,779,056 | 169.3 kb | Distal (>10kb) Multiome | 471 | |
| chr6:79,869,214–79,870,099 | 77.8 kb | Distal (>10kb) Multiome | 584 | |
| chr6:79,943,233–79,943,602 | 4.0 kb | Proximal (<10kb) | 81 | |
| chr6:79,946,362–79,948,249 | 49 bp | At TSS Multiome | 553 | |
| chr6:79,949,237–79,949,633 | 1.7 kb | Proximal (<10kb) | 186 | |
| chr6:80,003,546–80,005,540 | 57.0 kb | Distal (>10kb) Multiome | 751 | |
| chr6:80,105,995–80,107,273 | 159.1 kb | Distal (>10kb) Multiome | 842 | |
| chr6:80,162,998–80,164,431 | 216.4 kb | Distal (>10kb) Multiome | 331 |
Genomic view of the ELOVL4 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.