This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for ALDH18A1. 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 = ALDH18A1 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 ALDH18A1, 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 |
|---|---|---|---|---|
| chr10:95,425,771–95,426,669 | 230.5 kb | Distal (>10kb) Multiome | 202 | |
| chr10:95,560,414–95,561,730 | 95.3 kb | Distal (>10kb) Multiome | 707 | |
| chr10:95,655,874–95,657,154 | 31 bp | At TSS Multiome | 834 | |
| chr10:95,693,285–95,694,389 | 37.4 kb | Distal (>10kb) Multiome | 744 | |
| chr10:95,840,547–95,841,469 | 184.2 kb | Distal (>10kb) Multiome | 21 | |
| chr10:95,907,059–95,908,292 | 251.2 kb | Distal (>10kb) Multiome | 823 | |
| chr10:95,920,289–95,921,295 | 263.9 kb | Distal (>10kb) Multiome | 99 |
Genomic view of the ALDH18A1 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.