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Acid alpha-glucosidase, also called α-1,4-glucosidase[1] and acid maltase,[2] is an enzyme (EC3.2.1.20) that helps to break down glycogen in the lysosome. It is functionally similar to glycogen debranching enzyme, but is on a different chromosome, processed differently by the cell and is located in the lysosome rather than the cytosol.[3] In humans, it is encoded by the GAAgene.[2] Errors in this gene cause glycogen storage disease type II (Pompe disease).
This gene encodes lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. Different forms of acid alpha-glucosidase are obtained by proteolytic processing. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe disease, which is an autosomal recessive disorder with a broad clinical spectrum. Three transcript variants encoding the same protein have been found for this gene.[2]
References
↑Donald J. Voet; Judith G. Voet; Charlotte W. Pratt (2008). "Additional Pathways in Carbohydrate Metabolism". Principles of Biochemistry, Third edition. Wiley. p. 538. ISBN978-0470-23396-2.
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Hermans MM, de Graaff E, Kroos MA, Wisselaar HA, Oostra BA, Reuser AJ (September 1991). "Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II". Biochemical and Biophysical Research Communications. 179 (2): 919–26. doi:10.1016/0006-291X(91)91906-S. PMID1898413.
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Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R (March 1990). "Sequence of the cDNA and 5'-flanking region for human acid alpha-glucosidase, detection of an intron in the 5' untranslated leader sequence, definition of 18-bp polymorphisms, and differences with previous cDNA and amino acid sequences". DNA and Cell Biology. 9 (2): 85–94. doi:10.1089/dna.1990.9.85. PMID2111708.
Kalyanaraman VS, Rodriguez V, Veronese F, Rahman R, Lusso P, DeVico AL, Copeland T, Oroszlan S, Gallo RC, Sarngadharan MG (March 1990). "Characterization of the secreted, native gp120 and gp160 of the human immunodeficiency virus type 1". AIDS Research and Human Retroviruses. 6 (3): 371–80. doi:10.1089/aid.1990.6.371. PMID2187500.
Shimizu H, Tsuchie H, Honma H, Yoshida K, Tsuruoka T, Ushijima H, Kitamura T (June 1990). "Effect of N-(3-phenyl-2-propenyl)-1-deoxynojirimycin on the lectin binding to HIV-1 glycoproteins". Japanese Journal of Medical Science & Biology. 43 (3): 75–87. doi:10.7883/yoken1952.43.75. PMID2283726.
Leonard CK, Spellman MW, Riddle L, Harris RJ, Thomas JN, Gregory TJ (June 1990). "Assignment of intrachain disulfide bonds and characterization of potential glycosylation sites of the type 1 recombinant human immunodeficiency virus envelope glycoprotein (gp120) expressed in Chinese hamster ovary cells". The Journal of Biological Chemistry. 265 (18): 10373–82. PMID2355006.
