The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Mutations in the chromosome 9 copy of ASS cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene.
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Protein Aliases: Argininosuccinate synthase; argininosuccinate synthetase 1; Citrulline--aspartate ligase; citrulline-aspartate ligase; RP11-618A20.2
Gene Aliases: ASS; ASS1; CTLN1
UniProt ID: (Human) P00966
Entrez Gene ID: (Human) 445
Molecular Function: ligase