Official Full Name
argininosuccinate synthase 1
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.
ASS1; argininosuccinate synthase 1; argininosuccinate synthase; Argininosuccinate synthetase 1; ASS; Ass-1; ASSA; ASSY_HUMAN; Citrulline aspartate ligase; Citrulline--aspartate ligase; CTLN1; citrullinemia; argininosuccinate synthetase , ASS; citrulline-aspartate ligase; zgc:92051; wu:fb95a04; wu:fc01e08