ASS1 blocking peptide

The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 1 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 212]