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. [provided by RefSeq, Aug 2012]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| ASS1BA-20-REGO | 20 (40 μL) | 200 μL |
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| ASS1BA-20-REGR | 20 (40 μL) | 200 μL |
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| ASS1BA-20-ORGR | 20 (40 μL) | 200 μL |
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| ASS1BA-20-GOGR | 20 (40 μL) | 200 μL |
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| ASS1BA-20-GRRE | 20 (40 μL) | 200 μL |
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| ASS1BA-20-GROR | 20 (40 μL) | 200 μL |
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| ASS1BA-20-GRGO | 20 (40 μL) | 200 μL |
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| ASS1BA-20-AQOR | 20 (40 μL) | 200 μL |
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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. [provided by RefSeq, Aug 2012]
Gene Symbol : ASS1
Gene Name : Argininosuccinate synthase 1
Chromosome : CHR 9: 130,444,706-130,501,273
Locus : 9q34.11
Alt. Genes : RBM12
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