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Overview
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Calculated MW: 47 kDa
Observed MW: Refer to figures
Gene Accession: BC021676Please contact us at for specific academic pricing.
Background
ASS1 is a rate-limiting enzyme in the urea cycle. Citrullinemia type I is an autosomal recessive disorder that is caused by a deficiency of the urea cycle enzyme argininosuccinate synthetase (ASS1). Deficiency of ASS1 shows various clinical manifestations encompassing severely affected patients with fatal neonatal hyperammonemia as well as asymptomatic individuals with only a biochemical phenotype.
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