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Argininosuccinate synthase is an enzyme that in humans is encoded
by the 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
ASS cause citrullinemia. Two transcript variants encoding the same
protein have been found for this gene.
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