Biology:Acid alpha-glucosidase

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

Acid alpha-glucosidase, also called α-1,4-glucosidase and acid maltase, is an enzyme (EC 3.2.1.20) 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. In humans, it is encoded by the GAA gene. Errors in this gene cause glycogen storage disease type II (Pompe disease).

Function

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.

Further reading

• "AIDS and glycosylation". Glycobiology 1 (1): 17–23. September 1990. doi:10.1093/glycob/1.1.17. PMID 2136376. 
• "Glycogenosis type II (acid maltase deficiency)". Muscle & Nerve. Supplement 3: S61-9. 1995. doi:10.1002/mus.880181414. PMID 7603530. http://repub.eur.nl/pub/66923. 
• "Folding of the human immunodeficiency virus type 1 envelope glycoprotein in the endoplasmic reticulum". Biochimie 83 (8): 783–90. August 2001. doi:10.1016/S0300-9084(01)01314-1. PMID 11530211. 
• "Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele". American Journal of Human Genetics 49 (3): 635–45. September 1991. PMID 1652892. 
• "Effect of a glucosidase inhibitor on the bioactivity and immunoreactivity of human immunodeficiency virus type 1 envelope glycoprotein". The Journal of General Virology 72 (8): 1919–26. August 1991. doi:10.1099/0022-1317-72-8-1919. PMID 1678778. 
• "Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele". DNA and Cell Biology 10 (9): 681–7. November 1991. doi:10.1089/dna.1991.10.681. PMID 1684505. 
• "Inhibition of HIV and SIV infectivity by blockade of alpha-glucosidase activity". Virology 181 (1): 180–92. March 1991. doi:10.1016/0042-6822(91)90483-R. PMID 1704656. 
• "Role of asparagine-linked glycosylation in human immunodeficiency virus type 1 transmembrane envelope function". Virology 187 (1): 377–82. March 1992. doi:10.1016/0042-6822(92)90331-I. PMID 1736542. 
• "Human lysosomal alpha-glucosidase. Characterization of the catalytic site". The Journal of Biological Chemistry 266 (21): 13507–12. July 1991. doi:10.1016/S0021-9258(18)92727-4. PMID 1856189. 
• "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. September 1991. doi:10.1016/0006-291X(91)91906-S. PMID 1898413. 
• "Temporal expression of HIV-1 envelope proteins in baculovirus-infected insect cells: implications for glycosylation and CD4 binding". Genetic Analysis, Techniques and Applications 7 (6): 160–71. October 1990. doi:10.1016/0735-0651(90)90030-J. PMID 2076345. 
• "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. March 1990. doi:10.1089/dna.1990.9.85. PMID 2111708. 
• "Characterization of the secreted, native gp120 and gp160 of the human immunodeficiency virus type 1". AIDS Research and Human Retroviruses 6 (3): 371–80. March 1990. doi:10.1089/aid.1990.6.371. PMID 2187500. https://zenodo.org/record/1235229. 
• "Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cells". American Journal of Human Genetics 47 (3): 440–5. September 1990. PMID 2203258. 
• "Characterization of the human lysosomal alpha-glucosidase gene". The Biochemical Journal 272 (2): 493–7. December 1990. doi:10.1042/bj2720493. PMID 2268276. 
• "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. June 1990. doi:10.7883/yoken1952.43.75. PMID 2283726. 
• "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. June 1990. doi:10.1016/S0021-9258(18)86956-3. PMID 2355006. 
• "Role of oligosaccharides in the processing and maturation of envelope glycoproteins of human immunodeficiency virus type 1". Proceedings of the National Academy of Sciences of the United States of America 86 (9): 3384–8. May 1989. doi:10.1073/pnas.86.9.3384. PMID 2541446. Bibcode: 1989PNAS...86.3384P. 
• "Biosynthesis and processing of human immunodeficiency virus type 1 envelope glycoproteins: effects of monensin on glycosylation and transport". Journal of Virology 63 (6): 2452–6. June 1989. doi:10.1128/jvi.63.6.2452-2456.1989. PMID 2542563. 

External links

• GeneReview/NIH/UW entry on Glycogen Storage Disease Type II (Pompe Disease)
• Human GAA genome location and GAA gene details page in the UCSC Genome Browser.