This protein belongs to the aldehyde dehydrogenase family of proteins. This enzyme is a mitochondrial matrix NAD-dependent dehydrogenase which catalyzes the second step of the proline degradation pathway, converting pyrroline-5-carboxylate to glutamate. Deficiency of this enzyme is associated with type II hyperprolinemia, an autosomal recessive disorder characterized by accumulation of delta-1-pyrroline-5-carboxylate (P5C) and proline. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Jun 2009]
Transcription factors with Perturb-seq knockdown data for ALDH4A1. 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 = ALDH4A1 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 ALDH4A1, 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 |
|---|---|---|---|---|
| chr1:18,630,697–18,631,880 | 271.2 kb | Distal (>10kb) Multiome | 133 | |
| chr1:18,639,776–18,642,012 | 261.9 kb | Distal (>10kb) Multiome | 468 | |
| chr1:18,642,277–18,643,942 | 259.7 kb | Distal (>10kb) Multiome | 312 | |
| chr1:18,646,499–18,647,349 | 255.6 kb | Distal (>10kb) Multiome | 116 | |
| chr1:18,649,792–18,650,569 | 252.4 kb | Distal (>10kb) Multiome | 127 | |
| chr1:18,651,660–18,652,376 | 250.6 kb | Distal (>10kb) Multiome | 174 | |
| chr1:18,722,251–18,722,870 | 180.1 kb | Distal (>10kb) Multiome | 86 | |
| chr1:18,794,622–18,795,083 | 107.7 kb | Distal (>10kb) Multiome | 163 | |
| chr1:18,896,434–18,896,684 | 5.9 kb | Proximal (<10kb) | 57 | |
| chr1:18,902,301–18,903,312 | 290 bp | At TSS Multiome | 774 | |
| chr1:18,907,258–18,907,398 | 4.7 kb | Proximal (<10kb) | 187 | |
| chr1:18,955,480–18,957,564 | 54.2 kb | Distal (>10kb) Multiome | 702 |
Genomic view of the ALDH4A1 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.