The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene are associated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| ADSL-20-RE | 20 (40 μL) | 200 μL |  |
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| ADSL-20-OR | 20 (40 μL) | 200 μL |  |
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| ADSL-20-GO | 20 (40 μL) | 200 μL |  |
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| ADSL-20-GR | 20 (40 μL) | 200 μL |  |
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| ADSL-20-AQ | 20 (40 μL) | 200 μL |  |
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The protein encoded by this gene belongs to the lyase 1 family. It is an essential enzyme involved in purine metabolism, and catalyzes two non-sequential reactions in the de novo purine biosynthetic pathway: the conversion of succinylaminoimidazole carboxamide ribotide (SAICAR) to aminoimidazole carboxamide ribotide (AICAR) and the conversion of adenylosuccinate (S-AMP) to adenosine monophosphate (AMP). Mutations in this gene are associated with adenylosuccinase deficiency (ADSLD), a disorder marked with psychomotor retardation, epilepsy or autistic features. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]
Gene Symbol : ADSL
Gene Name : Adenylosuccinate lyase
Chromosome : CHR 22: 403,464,99-403,874,07
Locus : 22q13.1
Alt. Genes : PLXNC1
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