This gene encodes a member of the lyase 1 family. The encoded protein forms a cytosolic homotetramer and primarily catalyzes the reversible hydrolytic cleavage of argininosuccinate into arginine and fumarate, an essential step in the liver in detoxifying ammonia via the urea cycle. Mutations in this gene result in the autosomal recessive disorder argininosuccinic aciduria, or argininosuccinic acid lyase deficiency. A nontranscribed pseudogene is also located on the long arm of chromosome 22. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Transcription factors with Perturb-seq knockdown data for ASL. 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 = ASL 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 ASL, 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 |
|---|---|---|---|---|
| chr7:65,872,688–65,874,131 | 202.7 kb | Distal (>10kb) Multiome | 352 | |
| chr7:65,981,748–65,982,750 | 93.5 kb | Distal (>10kb) Multiome | 996 | |
| chr7:66,043,712–66,044,711 | 31.5 kb | Distal (>10kb) Multiome | 136 | |
| chr7:66,075,415–66,076,491 | 50 bp | At TSS Multiome | 802 | |
| chr7:66,099,334–66,100,655 | 24.4 kb | Distal (>10kb) Multiome | 495 | |
| chr7:66,114,557–66,115,604 | 39.3 kb | Distal (>10kb) Multiome | 958 | |
| chr7:66,204,762–66,205,981 | 129.4 kb | Distal (>10kb) Multiome | 816 |
Genomic view of the ASL 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.