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Background
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AGL is a 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 the AGL 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.
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Background
References
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- Horinishi, A., et al., J. Hum. Genet. 47(2):55-59 (2002).
- Bao, Y., et al., Genomics 38(2):155-165 (1996).
- Yang, B.Z., et al., J. Biol. Chem. 267(13):9294-9299 (1992).
- Yang-Feng, T.L., et al., Genomics 13(4):931-934 (1992).
- Bao, Y., et al., Gene 197 (1-2), 389-398 (1997).
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