Acid alpha-glucosidase, also called acid maltase,[5] is an enzyme 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.[6] In humans, it is encoded by the GAAgene.[5] 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.[5]
Referencesedit
^ abcGRCh38: Ensembl release 89: ENSG00000171298 – Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000025579 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Adeva-Andany MM, González-Lucán M, Donapetry-García C, Fernández-Fernández C, Ameneiros-Rodríguez E (June 2016). "Glycogen metabolism in humans". BBA Clinical. 5: 85–100. doi:10.1016/j.bbacli.2016.02.001. PMC4802397. PMID 27051594.
Further readingedit
Feizi T, Larkin M (September 1990). "AIDS and glycosylation". Glycobiology. 1 (1): 17–23. doi:10.1093/glycob/1.1.17. PMID 2136376.
Reuser AJ, Kroos MA, Hermans MM, Bijvoet AG, Verbeet MP, Van Diggelen OP, Kleijer WJ, Van der Ploeg AT (1995). "Glycogenosis type II (acid maltase deficiency)". Muscle & Nerve. Supplement. 3: S61-9. doi:10.1002/mus.880181414. hdl:1765/66923. PMID 7603530. S2CID 44030591.
Land A, Braakman I (August 2001). "Folding of the human immunodeficiency virus type 1 envelope glycoprotein in the endoplasmic reticulum". Biochimie. 83 (8): 783–90. doi:10.1016/S0300-9084(01)01314-1. hdl:1874/5091. PMID 11530211. S2CID 13576808.
Zhong N, Martiniuk F, Tzall S, Hirschhorn R (September 1991). "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. PMC1683123. PMID 1652892.
Fenouillet E, Gluckman JC (August 1991). "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. doi:10.1099/0022-1317-72-8-1919. PMID 1678778.
Martiniuk F, Mehler M, Bodkin M, Tzall S, Hirschhorn K, Zhong N, Hirschhorn R (November 1991). "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. doi:10.1089/dna.1991.10.681. PMID 1684505.
Ratner L, vander Heyden N, Dedera D (March 1991). "Inhibition of HIV and SIV infectivity by blockade of alpha-glucosidase activity". Virology. 181 (1): 180–92. doi:10.1016/0042-6822(91)90483-R. PMID 1704656.
Dedera DA, Gu RL, Ratner L (March 1992). "Role of asparagine-linked glycosylation in human immunodeficiency virus type 1 transmembrane envelope function". Virology. 187 (1): 377–82. doi:10.1016/0042-6822(92)90331-I. PMID 1736542.
Hermans MM, Kroos MA, van Beeumen J, Oostra BA, Reuser AJ (July 1991). "Human lysosomal alpha-glucosidase. Characterization of the catalytic site". The Journal of Biological Chemistry. 266 (21): 13507–12. doi:10.1016/S0021-9258(18)92727-4. PMID 1856189.
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. PMID 1898413.
Murphy CI, Lennick M, Lehar SM, Beltz GA, Young E (October 1990). "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. doi:10.1016/0735-0651(90)90030-J. PMID 2076345.
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. PMID 2111708.
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. PMID 2187500.
Martiniuk F, Bodkin M, Tzall S, Hirschhorn R (September 1990). "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. PMC1683879. PMID 2203258.
Hoefsloot LH, Hoogeveen-Westerveld M, Reuser AJ, Oostra BA (December 1990). "Characterization of the human lysosomal alpha-glucosidase gene". The Biochemical Journal. 272 (2): 493–7. doi:10.1042/bj2720493. PMC1149727. PMID 2268276.
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. PMID 2283726.
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. doi:10.1016/S0021-9258(18)86956-3. PMID 2355006.
Pal R, Hoke GM, Sarngadharan MG (May 1989). "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. Bibcode:1989PNAS...86.3384P. doi:10.1073/pnas.86.9.3384. PMC287137. PMID 2541446.
Dewar RL, Vasudevachari MB, Natarajan V, Salzman NP (June 1989). "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. doi:10.1128/jvi.63.6.2452-2456.1989. PMC250699. PMID 2542563.
External linksedit
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.
This article on a gene on human chromosome 17 is a stub. You can help Wikipedia by expanding it.
acid, alpha, glucosidase, also, called, acid, maltase, enzyme, that, helps, break, down, glycogen, lysosome, functionally, similar, glycogen, debranching, enzyme, different, chromosome, processed, differently, cell, located, lysosome, rather, than, cytosol, hu. Acid alpha glucosidase also called acid maltase 5 is an enzyme 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 6 In humans it is encoded by the GAA gene 5 Errors in this gene cause glycogen storage disease type II Pompe disease GAAIdentifiersAliasesGAA LYAG glucosidase alpha acid alpha glucosidaseExternal IDsOMIM 606800 MGI 95609 HomoloGene 37268 GeneCards GAA OMA GAA orthologsGene location Human Chr Chromosome 17 human 1 Band17q25 3Start80 101 556 bp 1 End80 119 881 bp 1 Gene location Mouse Chr Chromosome 11 mouse 2 Band11 E2 11 83 35 cMStart119 158 713 bp 2 End119 176 280 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inright uterine tubemonocyteanterior pituitaryright lungspleenupper lobe of left lunggastric mucosastromal cell of endometriumright lobe of thyroid glandminor salivary glandsTop expressed inarcuate nucleusparaventricular nucleus of hypothalamusmedian eminencedorsomedial hypothalamic nucleusventromedial nucleussuprachiasmatic nucleussupraoptic nucleusentorhinal cortexlateral hypothalamusventral tegmental areaMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionhydrolase activity hydrolyzing O glycosyl compounds hydrolase activity acting on glycosyl bonds maltose alpha glucosidase activity catalytic activity hydrolase activity carbohydrate binding oligo 1 6 glucosidase activity alpha 1 4 glucosidase activity alpha glucosidase activityCellular componentmembrane lysosomal membrane lysosomal lumen lysosome extracellular exosome plasma membrane azurophil granule membrane tertiary granule membrane ficolin 1 rich granule membrane integral component of membraneBiological processvacuolar sequestering cardiac muscle contraction muscle cell cellular homeostasis neuromuscular process controlling posture locomotory behavior neuromuscular process controlling balance regulation of the force of heart contraction diaphragm contraction heart morphogenesis maltose metabolic process glycogen catabolic process sucrose metabolic process tissue development glycogen metabolic process metabolism lysosome organization striated muscle contraction glucose metabolic process neutrophil degranulation carbohydrate metabolic processSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez254814387EnsemblENSG00000171298ENSMUSG00000025579UniProtP10253P70699RefSeq mRNA NM 000152NM 001079803NM 001079804NM 001159324NM 008064RefSeq protein NP 000143NP 001073271NP 001073272NP 001152796NP 032090Location UCSC Chr 17 80 1 80 12 MbChr 11 119 16 119 18 MbPubMed search 3 4 WikidataView Edit HumanView Edit Mouse Contents 1 Function 2 References 3 Further reading 4 External linksFunction editThis 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 5 References edit a b c GRCh38 Ensembl release 89 ENSG00000171298 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000025579 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine a b c Entrez Gene GAA glucosidase alpha acid Pompe disease glycogen storage disease type II Adeva Andany MM Gonzalez Lucan M Donapetry Garcia C Fernandez Fernandez C Ameneiros Rodriguez E June 2016 Glycogen metabolism in humans BBA Clinical 5 85 100 doi 10 1016 j bbacli 2016 02 001 PMC 4802397 PMID 27051594 Further reading editFeizi T Larkin M September 1990 AIDS and glycosylation Glycobiology 1 1 17 23 doi 10 1093 glycob 1 1 17 PMID 2136376 Reuser AJ Kroos MA Hermans MM Bijvoet AG Verbeet MP Van Diggelen OP Kleijer WJ Van der Ploeg AT 1995 Glycogenosis type II acid maltase deficiency Muscle amp Nerve Supplement 3 S61 9 doi 10 1002 mus 880181414 hdl 1765 66923 PMID 7603530 S2CID 44030591 Land A Braakman I August 2001 Folding of the human immunodeficiency virus type 1 envelope glycoprotein in the endoplasmic reticulum Biochimie 83 8 783 90 doi 10 1016 S0300 9084 01 01314 1 hdl 1874 5091 PMID 11530211 S2CID 13576808 Zhong N Martiniuk F Tzall S Hirschhorn R September 1991 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 PMC 1683123 PMID 1652892 Fenouillet E Gluckman JC August 1991 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 doi 10 1099 0022 1317 72 8 1919 PMID 1678778 Martiniuk F Mehler M Bodkin M Tzall S Hirschhorn K Zhong N Hirschhorn R November 1991 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 doi 10 1089 dna 1991 10 681 PMID 1684505 Ratner L vander Heyden N Dedera D March 1991 Inhibition of HIV and SIV infectivity by blockade of alpha glucosidase activity Virology 181 1 180 92 doi 10 1016 0042 6822 91 90483 R PMID 1704656 Dedera DA Gu RL Ratner L March 1992 Role of asparagine linked glycosylation in human immunodeficiency virus type 1 transmembrane envelope function Virology 187 1 377 82 doi 10 1016 0042 6822 92 90331 I PMID 1736542 Hermans MM Kroos MA van Beeumen J Oostra BA Reuser AJ July 1991 Human lysosomal alpha glucosidase Characterization of the catalytic site The Journal of Biological Chemistry 266 21 13507 12 doi 10 1016 S0021 9258 18 92727 4 PMID 1856189 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 PMID 1898413 Murphy CI Lennick M Lehar SM Beltz GA Young E October 1990 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 doi 10 1016 0735 0651 90 90030 J PMID 2076345 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 PMID 2111708 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 PMID 2187500 Martiniuk F Bodkin M Tzall S Hirschhorn R September 1990 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 PMC 1683879 PMID 2203258 Hoefsloot LH Hoogeveen Westerveld M Reuser AJ Oostra BA December 1990 Characterization of the human lysosomal alpha glucosidase gene The Biochemical Journal 272 2 493 7 doi 10 1042 bj2720493 PMC 1149727 PMID 2268276 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 amp Biology 43 3 75 87 doi 10 7883 yoken1952 43 75 PMID 2283726 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 doi 10 1016 S0021 9258 18 86956 3 PMID 2355006 Pal R Hoke GM Sarngadharan MG May 1989 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 Bibcode 1989PNAS 86 3384P doi 10 1073 pnas 86 9 3384 PMC 287137 PMID 2541446 Dewar RL Vasudevachari MB Natarajan V Salzman NP June 1989 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 doi 10 1128 jvi 63 6 2452 2456 1989 PMC 250699 PMID 2542563 External links editGeneReview 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 nbsp This article on a gene on human chromosome 17 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Acid alpha glucosidase amp oldid 1187452003, wikipedia, wiki, book, books, library,
