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Arginosuccinate synthetase catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 ASS pseudogenes scattered across the human genome; the ASS gene located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. The ASS primary transcript is subject to alternative splicing in the 5' non-coding region; a splice variant lacking exon 2 occurs in liver and fibroblast cells. Mutations in the chromosome 9 copy of ASS cause citrullinemia.
Gene Name: | argininosuccinate synthase 1 |
Synonyms: | ASS1, Argininosuccinate synthetase, ASS, Argininosuccinate synthase 1, CTLN1, Citrulline--aspartate ligase, Citrulline-aspartate ligase, Argininosuccinate synthase, Argininosuccinate synthetase 1 |
Target Sequences: | NM_000050 NP_000041.2 P00966 |
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