Aliases for ASS1 Gene
External Ids for ASS1 Gene
Previous HGNC Symbols for ASS1 Gene
Previous GeneCards Identifiers for ASS1 Gene
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 this gene cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Aug 2012]
GeneCards Summary for ASS1 Gene
ASS1 (Argininosuccinate Synthase 1) is a Protein Coding gene. Diseases associated with ASS1 include Citrullinemia, Classic and Acute Neonatal Citrullinemia Type I. Among its related pathways are Carbon metabolism and Arginine biosynthesis. Gene Ontology (GO) annotations related to this gene include amino acid binding.
UniProtKB/Swiss-Prot Summary for ASS1 Gene
One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyzes the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues.