Galactosidase

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== Disease ==
== Disease ==
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The inherited deficiency of Agal is the cause of Fabry disease<ref>PMID:5411915</ref>. Bgal deficiency can lead to galactosialidosis<ref>PMID:1683129</ref>.
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The inherited deficiency of Agal is the cause of Fabry disease<ref>PMID:5411915</ref>. Bgal mutations causing enzyme deficiency can lead to ganglioidosis<ref>PMID:10737981</ref>.
== 3D Structures of Galactosidase ==
== 3D Structures of Galactosidase ==

Revision as of 10:14, 3 March 2016

Template:STRUCTURE 3e1f

Contents

Function

α-Galactosidase (Agal) hydrolyzes the terminal α-galactosyl moiety from glycoproteins and glycolipids[1]. β-Galactosidase (Bgal) hydrolyzes β-galactosides into monosaccharides[2]. Isopropyl-β-d-thiogalactopyranoside (IPTG) induces Bgal activity. Phenylethyl-β-d-thiogalactopyranoside (PETG) is an inhibitor. Galactose, lactose, o-nitrophenyl-β-d-galactoside (ONPG) are substrates. Galactopyranosyl is reaction intermediate. For details on β-galactosidase see Molecular Playground/Beta-galactosidase.

Disease

The inherited deficiency of Agal is the cause of Fabry disease[3]. Bgal mutations causing enzyme deficiency can lead to ganglioidosis[4].

3D Structures of Galactosidase

Updated on 03-March-2016

For 3hg2 .

References

  1. ↑ Garman SC, Garboczi DN. The molecular defect leading to Fabry disease: structure of human alpha-galactosidase. J Mol Biol. 2004 Mar 19;337(2):319-35. PMID:15003450 doi:10.1016/j.jmb.2004.01.035
  2. ↑ Jacobson RH, Zhang XJ, DuBose RF, Matthews BW. Three-dimensional structure of beta-galactosidase from E. coli. Nature. 1994 Jun 30;369(6483):761-6. PMID:8008071 doi:http://dx.doi.org/10.1038/369761a08015589
  3. ↑ Kint JA. Fabry's disease: alpha-galactosidase deficiency. Science. 1970 Feb 27;167(3922):1268-9. PMID:5411915
  4. ↑ Morrone A, Bardelli T, Donati MA, Giorgi M, Di Rocco M, Gatti R, Parini R, Ricci R, Taddeucci G, D'Azzo A, Zammarchi E. beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement. Hum Mutat. 2000;15(4):354-66. PMID:10737981 doi:<354::AID-HUMU8>3.0.CO;2-L 10.1002/(SICI)1098-1004(200004)15:4<354::AID-HUMU8>3.0.CO;2-L


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Michal Harel, Alexander Berchansky

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