琥珀酸裂解酶抗体

琥珀酸裂解酶抗体 Background: 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] Also known as: Argininosuccinase; Argininosuccinate lyase; Arginosuccinase; ARLY_HUMAN; ASAL; ASL; EC 4.3.2.1.琥珀酸裂解酶抗体