| Entrez gene ID | | 445 |
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| Official gene symbol | | ASS1 |
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| Full name | | argininosuccinate synthase 1 |
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| Aliases | | ,ASS,CTLN1, |
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| Gene summary | | 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. [provided by RefSeq] |
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| Location | | Chromosome: 9 Locus: 9q34.1 |
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| Gene position | | 133320094 - 133376661 Map Viewer |
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| Gene orientation | | plus |
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| Gene size | | 56568 bp |
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| Gene sequence |
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| OMIM ID | | 603470 |
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