ASAL antibody, 2510006M18Rik antibody, zgc:63532 antibody, BA4879 antibody, PSPTO0125 antibody, Adl antibody, Asl antibody, argininosuccinate lyase antibody, argininosuccinate lyase ArgH antibody, adenylosuccinate lyase antibody, argininosuccinate lyase L homeolog antibody, ASL antibody, Asl antibody, asl antibody, argH2 antibody, argH antibody, arg7 antibody, CNC04420 antibody, STHERM_c13370 antibody, Adsl antibody, asl.L antibody, ARG7 antibody
背景
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.,ASL,ASAL,Cancer,Signal Transduction,Endocrine & Metabolism,Amino acid metabolism,ASL