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ASL 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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: argininosuccinase; Argininosuccinate lyase; Arginosuccinase; ASAL
基因别名: ASAL; ASL
UniProt ID: (Human) P04424
Entrez Gene ID: (Human) 435