This gene encodes a protein that is expressed at high levels in cardiac and skeletal muscle. Mutations in this gene have been associated with a number of clinical disorders including Barth syndrome, dilated cardiomyopathy (DCM), hypertrophic DCM, endocardial fibroelastosis, and left ventricular noncompaction (LVNC). Multiple transcript variants encoding different isoforms have been described. A long form and a short form of each of these isoforms is produced; the short form lacks a hydrophobic leader sequence and may exist as a cytoplasmic protein rather than being membrane-bound. Other alternatively spliced transcripts have been described but the full-length nature of all these transcripts is not known. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for TAFAZZIN. 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 = TAFAZZIN 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 TAFAZZIN, 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 |
|---|---|---|---|---|
| chrX:154,136,648–154,137,146 | 275.3 kb | Distal (>10kb) Multiome | 391 | |
| chrX:154,368,993–154,370,053 | 42.6 kb | Distal (>10kb) Multiome | 546 | |
| chrX:154,370,757–154,372,188 | 40.8 kb | Distal (>10kb) Multiome | 764 | |
| chrX:154,378,063–154,379,701 | 33.2 kb | Distal (>10kb) Multiome | 687 | |
| chrX:154,397,430–154,398,941 | 13.9 kb | Distal (>10kb) Multiome | 871 | |
| chrX:154,409,052–154,409,671 | 2.8 kb | Proximal (<10kb) Multiome | 396 | |
| chrX:154,411,411–154,411,578 | at TSS | At TSS | 498 | |
| chrX:154,412,051–154,412,257 | 528 bp | At TSS | 312 | |
| chrX:154,428,419–154,428,969 | 16.5 kb | Distal (>10kb) Multiome | 601 | |
| chrX:154,436,501–154,437,435 | 24.8 kb | Distal (>10kb) Multiome | 448 | |
| chrX:154,443,986–154,444,454 | 32.0 kb | Distal (>10kb) Multiome | 329 | |
| chrX:154,457,605–154,458,763 | 45.9 kb | Distal (>10kb) Multiome | 467 | |
| chrX:154,478,385–154,479,590 | 66.9 kb | Distal (>10kb) Multiome | 707 | |
| chrX:154,486,385–154,487,035 | 74.6 kb | Distal (>10kb) Multiome | 437 | |
| chrX:154,490,259–154,491,245 | 78.6 kb | Distal (>10kb) Multiome | 567 | |
| chrX:154,515,811–154,517,059 | 104.2 kb | Distal (>10kb) Multiome | 590 | |
| chrX:154,546,514–154,547,906 | 135.1 kb | Distal (>10kb) Multiome | 691 |
Genomic view of the TAFAZZIN 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.