This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for SLC25A19. 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 = SLC25A19 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 SLC25A19, 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 |
|---|---|---|---|---|
| chr17:75,012,158–75,013,285 | 276.7 kb | Distal (>10kb) Multiome | 1058 | |
| chr17:75,033,550–75,035,757 | 255.6 kb | Distal (>10kb) Multiome | 1228 | |
| chr17:75,046,451–75,047,855 | 242.3 kb | Distal (>10kb) Multiome | 961 | |
| chr17:75,087,344–75,088,429 | 201.6 kb | Distal (>10kb) Multiome | 717 | |
| chr17:75,109,401–75,110,734 | 179.5 kb | Distal (>10kb) Multiome | 762 | |
| chr17:75,130,577–75,132,090 | 157.7 kb | Distal (>10kb) Multiome | 990 | |
| chr17:75,153,354–75,155,273 | 134.8 kb | Distal (>10kb) Multiome | 993 | |
| chr17:75,182,199–75,183,441 | 106.4 kb | Distal (>10kb) Multiome | 908 | |
| chr17:75,205,060–75,205,995 | 84.0 kb | Distal (>10kb) Multiome | 975 | |
| chr17:75,240,373–75,240,941 | 48.8 kb | Distal (>10kb) Multiome | 436 | |
| chr17:75,261,304–75,262,404 | 27.7 kb | Distal (>10kb) Multiome | 983 | |
| chr17:75,270,231–75,271,942 | 18.2 kb | Distal (>10kb) Multiome | 946 | |
| chr17:75,288,761–75,289,874 | 111 bp | At TSS Multiome | 941 | |
| chr17:75,393,479–75,394,300 | 104.5 kb | Distal (>10kb) Multiome | 834 | |
| chr17:75,404,856–75,406,161 | 116.3 kb | Distal (>10kb) Multiome | 917 | |
| chr17:75,456,149–75,457,264 | 167.2 kb | Distal (>10kb) Multiome | 865 | |
| chr17:75,514,425–75,517,171 | 226.2 kb | Distal (>10kb) Multiome | 1158 | |
| chr17:75,524,764–75,527,160 | 236.1 kb | Distal (>10kb) Multiome | 951 | |
| chr17:75,549,465–75,550,388 | 260.4 kb | Distal (>10kb) Multiome | 602 | |
| chr17:75,587,697–75,590,735 | 300.0 kb | Distal (>10kb) Multiome | 744 |
Genomic view of the SLC25A19 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.