释义 |
- Function
- References
- Further reading
- External links
{{Infobox_gene}}Acid alpha-glucosidase, also called α-1,4-glucosidase[1] and acid maltase,[2] is an enzyme ({{EC number|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.[2] In humans, it is encoded by the GAA gene.[3] 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.[3] References 1. ^{{cite book | title = Principles of Biochemistry, Third edition | chapter = Additional Pathways in Carbohydrate Metabolism | first1 = Donald J. | last1 = Voet | first2 = Judith G. | last2 = Voet | first3 = Charlotte W. | last3 = Pratt | name-list-format = vanc | publisher = Wiley | year = 2008 | isbn = 978-0470-23396-2 | page = 538 }} 2. ^{{cite journal | vauthors = Adeva-Andany MM, González-Lucán M, Donapetry-García C, Fernández-Fernández C, Ameneiros-Rodríguez E | title = Glycogen metabolism in humans | journal = BBA Clinical | volume = 5 | pages = 85–100 | date = June 2016 | pmid = 27051594 | pmc = 4802397 | doi = 10.1016/j.bbacli.2016.02.001 }} 3. ^1 2 {{cite web | title = Entrez Gene: GAA glucosidase, alpha; acid (Pompe disease, glycogen storage disease type II)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2548| access-date = }}
Further reading {{refbegin}}- {{cite journal | vauthors = Feizi T, Larkin M | title = AIDS and glycosylation | journal = Glycobiology | volume = 1 | issue = 1 | pages = 17–23 | date = September 1990 | pmid = 2136376 | doi = 10.1093/glycob/1.1.17 }}
- {{cite journal | vauthors = Reuser AJ, Kroos MA, Hermans MM, Bijvoet AG, Verbeet MP, Van Diggelen OP, Kleijer WJ, Van der Ploeg AT | title = Glycogenosis type II (acid maltase deficiency) | journal = Muscle & Nerve. Supplement | volume = 3 | issue = | pages = S61-9 | year = 1995 | pmid = 7603530 | doi = 10.1002/mus.880181414 }}
- {{cite journal | vauthors = Land A, Braakman I | title = Folding of the human immunodeficiency virus type 1 envelope glycoprotein in the endoplasmic reticulum | journal = Biochimie | volume = 83 | issue = 8 | pages = 783–90 | date = August 2001 | pmid = 11530211 | doi = 10.1016/S0300-9084(01)01314-1 }}
- {{cite journal | vauthors = Zhong N, Martiniuk F, Tzall S, Hirschhorn R | title = 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 | journal = American Journal of Human Genetics | volume = 49 | issue = 3 | pages = 635–45 | date = September 1991 | pmid = 1652892 | pmc = 1683123 | doi = }}
- {{cite journal | vauthors = Fenouillet E, Gluckman JC | title = Effect of a glucosidase inhibitor on the bioactivity and immunoreactivity of human immunodeficiency virus type 1 envelope glycoprotein | journal = The Journal of General Virology | volume = 72 ( Pt 8) | issue = 8 | pages = 1919–26 | date = August 1991 | pmid = 1678778 | doi = 10.1099/0022-1317-72-8-1919 }}
- {{cite journal | vauthors = Martiniuk F, Mehler M, Bodkin M, Tzall S, Hirschhorn K, Zhong N, Hirschhorn R | title = Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele | journal = DNA and Cell Biology | volume = 10 | issue = 9 | pages = 681–7 | date = November 1991 | pmid = 1684505 | doi = 10.1089/dna.1991.10.681 }}
- {{cite journal | vauthors = Ratner L, vander Heyden N, Dedera D | title = Inhibition of HIV and SIV infectivity by blockade of alpha-glucosidase activity | journal = Virology | volume = 181 | issue = 1 | pages = 180–92 | date = March 1991 | pmid = 1704656 | doi = 10.1016/0042-6822(91)90483-R }}
- {{cite journal | vauthors = Dedera DA, Gu RL, Ratner L | title = Role of asparagine-linked glycosylation in human immunodeficiency virus type 1 transmembrane envelope function | journal = Virology | volume = 187 | issue = 1 | pages = 377–82 | date = March 1992 | pmid = 1736542 | doi = 10.1016/0042-6822(92)90331-I }}
- {{cite journal | vauthors = Hermans MM, Kroos MA, van Beeumen J, Oostra BA, Reuser AJ | title = Human lysosomal alpha-glucosidase. Characterization of the catalytic site | journal = The Journal of Biological Chemistry | volume = 266 | issue = 21 | pages = 13507–12 | date = July 1991 | pmid = 1856189 | doi = }}
- {{cite journal | vauthors = Hermans MM, de Graaff E, Kroos MA, Wisselaar HA, Oostra BA, Reuser AJ | title = Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II | journal = Biochemical and Biophysical Research Communications | volume = 179 | issue = 2 | pages = 919–26 | date = September 1991 | pmid = 1898413 | doi = 10.1016/0006-291X(91)91906-S }}
- {{cite journal | vauthors = Murphy CI, Lennick M, Lehar SM, Beltz GA, Young E | title = Temporal expression of HIV-1 envelope proteins in baculovirus-infected insect cells: implications for glycosylation and CD4 binding | journal = Genetic Analysis, Techniques and Applications | volume = 7 | issue = 6 | pages = 160–71 | date = October 1990 | pmid = 2076345 | doi = 10.1016/0735-0651(90)90030-J }}
- {{cite journal | vauthors = Martiniuk F, Mehler M, Tzall S, Meredith G, Hirschhorn R | title = 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 | journal = DNA and Cell Biology | volume = 9 | issue = 2 | pages = 85–94 | date = March 1990 | pmid = 2111708 | doi = 10.1089/dna.1990.9.85 }}
- {{cite journal | vauthors = Kalyanaraman VS, Rodriguez V, Veronese F, Rahman R, Lusso P, DeVico AL, Copeland T, Oroszlan S, Gallo RC, Sarngadharan MG | title = Characterization of the secreted, native gp120 and gp160 of the human immunodeficiency virus type 1 | journal = AIDS Research and Human Retroviruses | volume = 6 | issue = 3 | pages = 371–80 | date = March 1990 | pmid = 2187500 | doi = 10.1089/aid.1990.6.371 }}
- {{cite journal | vauthors = Martiniuk F, Bodkin M, Tzall S, Hirschhorn R | title = 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 | journal = American Journal of Human Genetics | volume = 47 | issue = 3 | pages = 440–5 | date = September 1990 | pmid = 2203258 | pmc = 1683879 | doi = }}
- {{cite journal | vauthors = Hoefsloot LH, Hoogeveen-Westerveld M, Reuser AJ, Oostra BA | title = Characterization of the human lysosomal alpha-glucosidase gene | journal = The Biochemical Journal | volume = 272 | issue = 2 | pages = 493–7 | date = December 1990 | pmid = 2268276 | pmc = 1149727 | doi = 10.1042/bj2720493 }}
- {{cite journal | vauthors = Shimizu H, Tsuchie H, Honma H, Yoshida K, Tsuruoka T, Ushijima H, Kitamura T | title = Effect of N-(3-phenyl-2-propenyl)-1-deoxynojirimycin on the lectin binding to HIV-1 glycoproteins | journal = Japanese Journal of Medical Science & Biology | volume = 43 | issue = 3 | pages = 75–87 | date = June 1990 | pmid = 2283726 | doi = 10.7883/yoken1952.43.75 }}
- {{cite journal | vauthors = Leonard CK, Spellman MW, Riddle L, Harris RJ, Thomas JN, Gregory TJ | title = 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 | journal = The Journal of Biological Chemistry | volume = 265 | issue = 18 | pages = 10373–82 | date = June 1990 | pmid = 2355006 | doi = }}
- {{cite journal | vauthors = Pal R, Hoke GM, Sarngadharan MG | title = Role of oligosaccharides in the processing and maturation of envelope glycoproteins of human immunodeficiency virus type 1 | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 86 | issue = 9 | pages = 3384–8 | date = May 1989 | pmid = 2541446 | pmc = 287137 | doi = 10.1073/pnas.86.9.3384 }}
- {{cite journal | vauthors = Dewar RL, Vasudevachari MB, Natarajan V, Salzman NP | title = Biosynthesis and processing of human immunodeficiency virus type 1 envelope glycoproteins: effects of monensin on glycosylation and transport | journal = Journal of Virology | volume = 63 | issue = 6 | pages = 2452–6 | date = June 1989 | pmid = 2542563 | pmc = 250699 | doi = }}
{{refend}} External links - [https://www.ncbi.nlm.nih.gov/books/NBK1261/ GeneReview/NIH/UW entry on Glycogen Storage Disease Type II (Pompe Disease)]
- {{UCSC gene info|GAA}}
{{Sugar hydrolases}}{{Glycogenesis and glycogenolysis enzymes}}{{gene-17-stub}} |