acid alpha-glucosidase

酸性αグルコシダーゼ

関

GAA

WordNet

1. first in order of importance; "the alpha male in the group of chimpanzees"; "the alpha star in a constellation is the brightest or main star"
2. the 1st letter of the Greek alphabet
3. the beginning of a series or sequence; "the Alpha and Omega, the first and the last, the beginning and the end"--Revelations
4. early testing stage of a software or hardware product; "alpha version"
5. street name for lysergic acid diethylamide (同)back breaker, battery-acid, dose, dot, Elvis, loony toons, Lucy in the sky with diamonds, pane, superman, window pane, Zen
6. any of various water-soluble compounds having a sour taste and capable of turning litmus red and reacting with a base to form a salt
7. having the characteristics of an acid; "an acid reaction"
8. any high mountain

PrepTutorEJDIC

1. アルファ(ギリシア語アルファベットの第1字A,α;英語のA,aに相当) / アルファ星(星座の主星)
2. 酸性の / 酸味のある,すっぱい(sour) / (言葉・態度などが)厳しい,しんらつな / 酸 / すっぱいもの / 《俗》=LSD
3. 高山,高峰

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/08/21 15:45:28」(JST)

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Glucosidase, alpha; acid
Identifiers
Symbols	GAA ; LYAG
External IDs	OMIM: 606800 MGI: 95609 HomoloGene: 37268 ChEMBL: 2608 GeneCards: GAA Gene
EC number	3.2.1.20
Gene ontology Molecular function • alpha-1,4-glucosidase activity • carbohydrate binding • maltose alpha-glucosidase activity Cellular component • lysosome • lysosomal membrane • membrane • lysosomal lumen • extracellular exosome Biological process • maltose metabolic process • regulation of the force of heart contraction • diaphragm contraction • heart morphogenesis • carbohydrate metabolic process • glycogen catabolic process • sucrose metabolic process • glucose metabolic process • lysosome organization • locomotory behavior • tissue development • vacuolar sequestering • small molecule metabolic process • muscle cell cellular homeostasis • neuromuscular process controlling posture • neuromuscular process controlling balance • cardiac muscle contraction Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	2548	14387
Ensembl	ENSG00000171298	ENSMUSG00000025579
UniProt	P10253	P70699
RefSeq (mRNA)	NM_000152	NM_001159324
RefSeq (protein)	NP_000143	NP_001152796
Location (UCSC)	Chr 17: 80.1 – 80.12 Mb	Chr 11: 119.27 – 119.29 Mb
PubMed search	[1]	[2]

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

This gene encodes acid 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.

References

External links

• GeneReview/NIH/UW entry on Glycogen Storage Disease Type II (Pompe Disease)

Further reading

• Feizi T, Larkin M (1992). "AIDS and glycosylation.". Glycobiology 1 (1): 17–23. doi:10.1093/glycob/1.1.17. PMID 2136376. 
• Reuser AJ, Kroos MA, Hermans MM et al. (1995). "Glycogenosis type II (acid maltase deficiency).". Muscle Nerve 3: S61–9. doi:10.1002/mus.880181414. PMID 7603530. 
• Land A, Braakman I (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. PMID 11530211. 
• Zhong N, Martiniuk F, Tzall S, Hirschhorn R (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.". Am. J. Hum. Genet. 49 (3): 635–45. PMC 1683123. PMID 1652892. 
• Fenouillet E, Gluckman JC (1991). "Effect of a glucosidase inhibitor on the bioactivity and immunoreactivity of human immunodeficiency virus type 1 envelope glycoprotein.". J. Gen. Virol. 72 ( Pt 8) (8): 1919–26. doi:10.1099/0022-1317-72-8-1919. PMID 1678778. 
• Martiniuk F, Mehler M, Bodkin M et al. (1992). "Identification of a missense mutation in an adult-onset patient with glycogenosis type II expressing only one allele". DNA Cell Biol. 10 (9): 681–7. doi:10.1089/dna.1991.10.681. PMID 1684505. 
• Ratner L, vander Heyden N, Dedera D (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 (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 et al. (1991). "Human lysosomal alpha-glucosidase. Characterization of the catalytic site". J. Biol. Chem. 266 (21): 13507–12. PMID 1856189. 
• Hermans MM, de Graaff E, Kroos MA et al. (1991). "Identification of a point mutation in the human lysosomal alpha-glucosidase gene causing infantile glycogenosis type II". Biochem. Biophys. Res. Commun. 179 (2): 919–26. doi:10.1016/0006-291X(91)91906-S. PMID 1898413. 
• Murphy CI, Lennick M, Lehar SM et al. (1991). "Temporal expression of HIV-1 envelope proteins in baculovirus-infected insect cells: implications for glycosylation and CD4 binding". Genet. Anal. Tech. Appl. 7 (6): 160–71. doi:10.1016/0735-0651(90)90030-J. PMID 2076345. 
• Martiniuk F, Mehler M, Tzall S et al. (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 Cell Biol. 9 (2): 85–94. doi:10.1089/dna.1990.9.85. PMID 2111708. 
• Kalyanaraman VS, Rodriguez V, Veronese F et al. (1990). "Characterization of the secreted, native gp120 and gp160 of the human immunodeficiency virus type 1". AIDS Res. Hum. Retroviruses 6 (3): 371–80. doi:10.1089/aid.1990.6.371. PMID 2187500. 
• Martiniuk F, Bodkin M, Tzall S, Hirschhorn R (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". Am. J. Hum. Genet. 47 (3): 440–5. PMC 1683879. PMID 2203258. 
• Hoefsloot LH, Hoogeveen-Westerveld M, Reuser AJ, Oostra BA (1991). "Characterization of the human lysosomal alpha-glucosidase gene". Biochem. J. 272 (2): 493–7. PMC 1149727. PMID 2268276. 
• Shimizu H, Tsuchie H, Honma H et al. (1991). "Effect of N-(3-phenyl-2-propenyl)-1-deoxynojirimycin on the lectin binding to HIV-1 glycoproteins". Jpn. J. Med. Sci. Biol. 43 (3): 75–87. doi:10.7883/yoken1952.43.75. PMID 2283726. 
• Leonard CK, Spellman MW, Riddle L et al. (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". J. Biol. Chem. 265 (18): 10373–82. PMID 2355006. 
• Pal R, Hoke GM, Sarngadharan MG (1989). "Role of oligosaccharides in the processing and maturation of envelope glycoproteins of human immunodeficiency virus type 1". Proc. Natl. Acad. Sci. U.S.A. 86 (9): 3384–8. doi:10.1073/pnas.86.9.3384. PMC 287137. PMID 2541446. 
• Dewar RL, Vasudevachari MB, Natarajan V, Salzman NP (1989). "Biosynthesis and processing of human immunodeficiency virus type 1 envelope glycoproteins: effects of monensin on glycosylation and transport". J. Virol. 63 (6): 2452–6. PMC 250699. PMID 2542563. 

UpToDate Contents

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• 1. リソソーム酸α-グルコシダーゼ欠損症（ポンペ病、糖原病II型、酸マルターゼ欠損症） lysosomal acid alpha glucosidase deficiency pompe disease glycogen storage disease ii acid maltase deficiency
• 2. 糖尿病の治療におけるα-グルコシダーゼ阻害剤およびリパーゼ阻害剤 alpha glucosidase inhibitors and lipase inhibitors for treatment of diabetes mellitus
• 3. 疾患予防におけるビタミン補給 vitamin supplementation in disease prevention
• 4. 急性前骨髄球性白血病の分子生物学 molecular biology of acute promyelocytic leukemia
• 5. Open neural tube defects: Risk factors, prenatal screening and diagnosis, and pregnancy management

English Journal

• A novel sample preparation and on-line HPLC-DAD-MS/MS-BCD analysis for rapid screening and characterization of specific enzyme inhibitors in herbal extracts: Case study of α-glucosidase.

• Li DQ, Zhao J, Xie J, Li SP.SourceState Key Laboratory of Quality Research in Chinese Medicine, Institute of Chinese Medical Sciences, University of Macau, Macao, China.
• Journal of pharmaceutical and biomedical analysis.J Pharm Biomed Anal.2014 Jan;88:130-5. doi: 10.1016/j.jpba.2013.08.029. Epub 2013 Aug 31.
• Drug discovery from complex mixture like Chinese herbs is a challenge and extensive false positives make the obtainment of specific bioactive compounds difficult. In the present study, a novel sample preparation method was proposed to rapidly reveal the specific bioactive compounds from complex mixt
• PMID 24055848

• Polysomnographic findings in infantile Pompe disease.

• Kansagra S, Austin S, Dearmey S, Kishnani PS, Kravitz RM.SourceDivision of Pediatric Neurology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina.
• American journal of medical genetics. Part A.Am J Med Genet A.2013 Dec;161(12):3196-200. doi: 10.1002/ajmg.a.36227. Epub 2013 Oct 2.
• Infantile Pompe disease is a rare, autosomal recessive disorder due to deficiency of the enzyme acid α-glucosidase that degrades lysosomal glycogen. Clinical features of diffuse hypotonia, cardiomyopathy, and weakness are present within the first days to months of life in patients with classic infa
• PMID 24123966

• Modulation of liver function, antioxidant responses, insulin resistance and glucose transport by Oroxylum indicum stem bark in STZ induced diabetic rats.

• Singh J, Kakkar P.SourceHerbal Research Section, CSIR-Indian Institute of Toxicology Research, Post Box No. 80, Mahatma Gandhi Marg, Lucknow 226001, UP, India.
• Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association.Food Chem Toxicol.2013 Dec;62:722-31. doi: 10.1016/j.fct.2013.09.035. Epub 2013 Oct 15.
• A decoction of stem bark of Oroxylum indicum Vent. (OI) is taken (2-3times/day) by the tribal people of Sikkim, India to treat diabetes but scientific validation of its overall potential is lacking. Present study was aimed to assess in vitro antihyperglycemic activity of standardized OI extract usin
• PMID 24140466

Japanese Journal

• Identification of alpha-glucosidase inhibitors from the leaves of Pluchea indica (L.) Less., a traditional Indonesian herb: promotion of natural product use

• Natural Product Research 28(17), 1350-1353, 2015-10-15
• NAID 120005661429

• Biochemical properties and substrate recognition mechanism of GH31 alpha-glucosidase from Bacillus sp AHU 2001 with broad substrate specificity

• Biochimie 108, 140-148, 2015-01
• NAID 120005595703

• Characterization of an α-glucosidase, HdAgl, from the digestive fluid of Haliotis discus hannai

• Comparative biochemistry and physiology b : biochemistry & molecular biology 166(1), 15-22, 2013-09
• NAID 120005342539

Related Links

• OMIM Entry - * 606800 - GLUCOSIDASE, ALPHA, ACID; GAA

TEXT Description Alpha-1,4-glucosidase (GAA; EC 3.2.1.20) is a lysosomal enzyme involved in the degradation of glycogen within cellular vacuoles. Cloning ...

• Acid Alpha-glucosidase

What Is The Definition Of Alpha glucosidase inhibitor (Medical Dictionary Online), How to Pronounce Alpha-Glucosidase, Global Pompe Disease Market 2015 - Size, Share, Growth & Forecast 2019, PRIMA Diva Super White Serum

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★リンクテーブル★

リンク元	「酸性αグルコシダーゼ」「酸性α-グルコシダーゼ」「GAA」
拡張検索	「human acid alpha-glucosidase」「recombinant human acid alpha-glucosidase」
関連記事	「alpha」

「酸性αグルコシダーゼ」

　　[★]

英

acid alpha-glucosidase、GAA

関

酸性α-グルコシダーゼ

「酸性α-グルコシダーゼ」

　　[★]

英

acid alpha-glucosidase

関

酸性αグルコシダーゼ

「GAA」

　　[★]

• 酸性αグルコシダーゼ

関

acid alpha-glucosidase

「human acid alpha-glucosidase」

　　[★]

ヒト酸性αグルコシダーゼ

関

alglucosidase alfa、recombinant human acid alpha-glucosidase、rhGAA

「recombinant human acid alpha-glucosidase」

　　[★]

組換え型ヒト酸性αグルコシダーゼ

関

alglucosidase alfa、human acid alpha-glucosidase、rhGAA

「alpha」

　　[★]

α、アルファ

関

alfa