This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| AGLBA-20-REGO | 20 (40 μL) | 200 μL |
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| AGLBA-20-REGR | 20 (40 μL) | 200 μL |
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| AGLBA-20-ORGR | 20 (40 μL) | 200 μL |
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| AGLBA-20-GOGR | 20 (40 μL) | 200 μL |
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| AGLBA-20-GRRE | 20 (40 μL) | 200 μL |
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| AGLBA-20-GROR | 20 (40 μL) | 200 μL |
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| AGLBA-20-GRGO | 20 (40 μL) | 200 μL |
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| AGLBA-20-AQOR | 20 (40 μL) | 200 μL |
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This gene encodes the glycogen debrancher enzyme which is involved in glycogen degradation. This enzyme has two independent catalytic activities which occur at different sites on the protein: a 4-alpha-glucotransferase activity and a amylo-1,6-glucosidase activity. Mutations in this gene are associated with glycogen storage disease although a wide range of enzymatic and clinical variability occurs which may be due to tissue-specific alternative splicing. Alternatively spliced transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
Gene Symbol : AGL
Gene Name : Amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
Chromosome : CHR 1: 998,500,76-999,240,22
Locus : 1p21.2
Alt. Genes : LRPPRC
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