| ID | Sequence | Length | GC content |
|---|---|---|---|
| AGUGGCGGGCGCGACACUAUCCGUGCGGCCAGGCGGAGACCCGGAGGAC… | 2140 nt | 0.5902 | |
| AGUGGCGGGCGCGACACUAUCCGUGCGGCCAGGCGGAGGUGAGUGCGCG… | 2322 nt | 0.6016 | |
| AGUGGCGGGCGCGACACUAUCCGUGCGGCCAGGCGGAGGUGAGUGCGCG… | 2262 nt | 0.6030 | |
| AGUGGCGGGCGCGACACUAUCCGUGCGGCCAGGCGGAGGUGAGUGCGCG… | 2244 nt | 0.5989 |
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]
A study in rats demonstrated that non-targeted metabolomic profiling of iliopsoas muscle identified numerous differential metabolites for discriminating fatal hypothermia from hypoxia and control deaths, with six machine learning models achieving high predictive accuracy [Li et al. DOI:10.1016/J.Jflm.2026.103089]. A study in humans demonstrated that the ASL serves as a marker for Bas-I keratinocytes in acute skin wound healing [Liu et al. DOI:10.1016/j.stem.2024.11.013], while a separate transcriptomic analysis of post-mortem tissues from sepsis patients found the ASL was downregulated as part of the inhibited metabolism of amino acids and derivatives pathway in the hippocampus and kidney [Pinheiro da Silva et al. DOI:10.1111/jcmm.17938].