The protein encoded by this gene is a member of subfamily 7 in the aldehyde dehydrogenase gene family. These enzymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This particular member has homology to a previously described protein from the green garden pea, the 26g pea turgor protein. It is also involved in lysine catabolism that is known to occur in the mitochondrial matrix. Recent reports show that this protein is found both in the cytosol and the mitochondria, and the two forms likely arise from the use of alternative translation initiation sites. An additional variant encoding a different isoform has also been found for this gene. Mutations in this gene are associated with pyridoxine-dependent epilepsy. Several related pseudogenes have also been identified. [provided by RefSeq, Jan 2011]
Transcription factors with Perturb-seq knockdown data for ALDH7A1. 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 = ALDH7A1 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 ALDH7A1, 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 |
|---|---|---|---|---|
| chr5:126,317,233–126,317,918 | 277.6 kb | Distal (>10kb) Multiome | 47 | |
| chr5:126,368,229–126,369,139 | 226.6 kb | Distal (>10kb) Multiome HiCAR | 331 | |
| chr5:126,422,966–126,423,868 | 171.8 kb | Distal (>10kb) Multiome | 621 | |
| chr5:126,591,477–126,591,957 | 3.5 kb | Proximal (<10kb) Multiome | 61 | |
| chr5:126,594,453–126,595,707 | 65 bp | At TSS Multiome | 803 | |
| chr5:126,599,987–126,601,746 | 5.7 kb | Proximal (<10kb) Multiome | 911 | |
| chr5:126,674,036–126,674,611 | 79.1 kb | Distal (>10kb) Multiome | 99 | |
| chr5:126,718,055–126,718,948 | 123.3 kb | Distal (>10kb) Multiome | 184 | |
| chr5:126,735,879–126,736,525 | 141.1 kb | Distal (>10kb) Multiome | 84 | |
| chr5:126,747,828–126,748,496 | 153.0 kb | Distal (>10kb) Multiome | 495 | |
| chr5:126,776,292–126,778,844 | 181.7 kb | Distal (>10kb) Multiome | 1113 | |
| chr5:126,839,262–126,839,804 | 244.4 kb | Distal (>10kb) Multiome | 90 |
Genomic view of the ALDH7A1 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.