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 |
---|---|---|---|---|
AGL-20-RE | 20 (40 μL) | 200 μL | Request Pricing | |
AGL-20-OR | 20 (40 μL) | 200 μL | Request Pricing | |
AGL-20-GO | 20 (40 μL) | 200 μL | Request Pricing | |
AGL-20-GR | 20 (40 μL) | 200 μL | Request Pricing | |
AGL-20-AQ | 20 (40 μL) | 200 μL | Request Pricing |
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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