Recombinant Human Argininosuccinate synthase (ASS1)

Uniprot Id

P00966

Target Species

Human

Target Name

ASS1

Target Full Name

Argininosuccinate synthase

Target Function

One of the enzymes of the urea cycle, the metabolic pathway transforming neurotoxic amonia produced by protein catabolism into inocuous urea in the liver of ureotelic animals. Catalyzes the formation of arginosuccinate from aspartate, citrulline and ATP and together with ASL it is responsible for the biosynthesis of arginine in most body tissues.

Target Involvement

Citrullinemia 1 (CTLN1)

Target Subcellular Location

Cytoplasm, cytosol.

Target Protein Families

Argininosuccinate synthase family, Type 1 subfamily

Target Tissue Specificity

Expressed in adult liver.

Target Synonyms

Argininosuccinate synthase 1; Argininosuccinate synthase; Argininosuccinate synthetase 1; ASS ; Ass-1; ass1; ASSA; ASSY_HUMAN; Citrulline aspartate ligase; Citrulline--aspartate ligase; CTLN1

Target Background

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.