This gene encodes a member of the aldehyde dehydrogenase protein family. The encoded protein is a mitochondrial methylmalonate semialdehyde dehydrogenase that plays a role in the valine and pyrimidine catabolic pathways. This protein catalyzes the irreversible oxidative decarboxylation of malonate and methylmalonate semialdehydes to acetyl- and propionyl-CoA. Methylmalonate semialdehyde dehydrogenase deficiency is characterized by elevated beta-alanine, 3-hydroxypropionic acid, and both isomers of 3-amino and 3-hydroxyisobutyric acids in urine organic acids. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jun 2013]
Transcription factors with Perturb-seq knockdown data for ALDH6A1. 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 = ALDH6A1 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 ALDH6A1, 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 |
|---|---|---|---|---|
| chr14:73,785,281–73,785,818 | 298.9 kb | Distal (>10kb) Multiome | 458 | |
| chr14:73,786,685–73,787,517 | 297.2 kb | Distal (>10kb) Multiome | 497 | |
| chr14:73,851,491–73,852,843 | 232.5 kb | Distal (>10kb) Multiome | 842 | |
| chr14:73,886,331–73,887,426 | 197.6 kb | Distal (>10kb) Multiome | 963 | |
| chr14:73,949,767–73,950,750 | 134.2 kb | Distal (>10kb) Multiome | 932 | |
| chr14:74,018,639–74,019,694 | 65.1 kb | Distal (>10kb) Multiome | 791 | |
| chr14:74,083,828–74,085,467 | 247 bp | At TSS Multiome | 824 | |
| chr14:74,257,088–74,257,807 | 173.2 kb | Distal (>10kb) Multiome | 415 | |
| chr14:74,302,423–74,303,735 | 218.6 kb | Distal (>10kb) Multiome | 863 | |
| chr14:74,326,054–74,327,644 | 242.4 kb | Distal (>10kb) Multiome | 320 | |
| chr14:74,347,561–74,349,516 | 264.2 kb | Distal (>10kb) Multiome | 231 | |
| chr14:74,362,136–74,363,080 | 278.1 kb | Distal (>10kb) Multiome | 318 |
Genomic view of the ALDH6A1 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.