ASS1, Official Symbol ASS1provided by HGNC Official Full Name argininosuccinate synthase 1provided by HGNC Primary source HGNC:HGNC:758 See related Ensembl:ENSG00000130707 MIM:603470; AllianceGenome:HGNC:758 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ASS; CTLN1 Summary 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] Expression Biased expression in kidney (RPKM 573.0), liver (RPKM 443.3) and 9 other tissues See more Orthologs mouse all