ASS1 Antibody / Argininosuccinate synthetase 1

Argininosuccinate synthetase is an enzyme that in humans is encoded by the ASS1 gene. It is mapped to 9q34.11. 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.