This protein belongs to the aldehyde dehydrogenase family of proteins. This gene encodes a mitochondrial NAD(+)-dependent succinic semialdehyde dehydrogenase. A deficiency of this enzyme, known as 4-hydroxybutyricaciduria, is a rare inborn error in the metabolism of the neurotransmitter 4-aminobutyric acid (GABA). In response to the defect, physiologic fluids from patients accumulate GHB, a compound with numerous neuromodulatory properties. Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for ALDH5A1. 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 = ALDH5A1 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 ALDH5A1, 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 |
|---|---|---|---|---|
| chr6:24,359,660–24,360,414 | 135.2 kb | Distal (>10kb) Multiome | 591 | |
| chr6:24,399,950–24,401,131 | 94.7 kb | Distal (>10kb) Multiome | 381 | |
| chr6:24,402,665–24,403,713 | 92.3 kb | Distal (>10kb) Multiome | 945 | |
| chr6:24,492,613–24,492,777 | 2.5 kb | Proximal (<10kb) | 86 | |
| chr6:24,494,447–24,495,849 | 92 bp | At TSS Multiome | 946 | |
| chr6:24,630,916–24,631,933 | 136.2 kb | Distal (>10kb) Multiome | 80 | |
| chr6:24,645,624–24,646,552 | 150.9 kb | Distal (>10kb) Multiome | 641 | |
| chr6:24,666,308–24,667,466 | 171.7 kb | Distal (>10kb) Multiome | 1037 | |
| chr6:24,719,378–24,722,053 | 226.0 kb | Distal (>10kb) Multiome | 1238 | |
| chr6:24,774,256–24,775,895 | 279.9 kb | Distal (>10kb) Multiome | 1073 |
Genomic view of the ALDH5A1 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.