This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19. [provided by RefSeq, Oct 2009]
Transcription factors with Perturb-seq knockdown data for LETM1. 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 = LETM1 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 LETM1, 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 |
|---|---|---|---|---|
| chr4:1,578,390–1,579,916 | 276.9 kb | Distal (>10kb) Multiome | 472 | |
| chr4:1,580,022–1,580,836 | 275.5 kb | Distal (>10kb) Multiome | 412 | |
| chr4:1,683,721–1,685,162 | 171.7 kb | Distal (>10kb) Multiome | 624 | |
| chr4:1,711,443–1,713,255 | 143.6 kb | Distal (>10kb) Multiome | 1043 | |
| chr4:1,720,066–1,721,937 | 134.8 kb | Distal (>10kb) Multiome | 817 | |
| chr4:1,746,068–1,746,713 | 109.8 kb | Distal (>10kb) Multiome | 499 | |
| chr4:1,748,435–1,748,986 | 107.4 kb | Distal (>10kb) Multiome | 420 | |
| chr4:1,766,230–1,768,653 | 88.8 kb | Distal (>10kb) Multiome | 781 | |
| chr4:1,792,302–1,795,939 | 63.0 kb | Distal (>10kb) Multiome | 784 | |
| chr4:1,809,836–1,810,515 | 46.0 kb | Distal (>10kb) Multiome | 554 | |
| chr4:1,855,368–1,857,225 | 129 bp | At TSS Multiome | 849 | |
| chr4:1,870,118–1,872,300 | 15.0 kb | Distal (>10kb) Multiome | 962 | |
| chr4:2,008,507–2,010,125 | 153.1 kb | Distal (>10kb) Multiome | 1040 | |
| chr4:2,041,030–2,042,663 | 185.8 kb | Distal (>10kb) Multiome | 554 | |
| chr4:2,058,181–2,059,492 | 203.1 kb | Distal (>10kb) Multiome | 367 | |
| chr4:2,060,701–2,061,398 | 204.9 kb | Distal (>10kb) Multiome | 197 |
Genomic view of the LETM1 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.