We apologize for Proteopedia being slow to respond. For the past two years, a new implementation of Proteopedia has been being built. Soon, it will replace this 18-year old system. All existing content will be moved to the new system at a date that will be announced here.

1r47

From Proteopedia

(Difference between revisions)
Jump to: navigation, search
Line 1: Line 1:
-
[[Image:1r47.gif|left|200px]]
+
{{Seed}}
 +
[[Image:1r47.png|left|200px]]
<!--
<!--
Line 9: Line 10:
{{STRUCTURE_1r47| PDB=1r47 | SCENE= }}
{{STRUCTURE_1r47| PDB=1r47 | SCENE= }}
-
'''Structure of human alpha-galactosidase'''
+
===Structure of human alpha-galactosidase===
-
==Overview==
+
<!--
-
Fabry disease is an X-linked lysosomal storage disease afflicting 1 in 40,000 males with chronic pain, vascular degeneration, cardiac impairment, and other symptoms. Deficiency in the lysosomal enzyme alpha-galactosidase (alpha-GAL) causes an accumulation of its substrate, which ultimately leads to Fabry disease symptoms. Here, we present the structure of the human alpha-GAL glycoprotein determined by X-ray crystallography. The structure is a homodimer with each monomer containing a (beta/alpha)8 domain with the active site and an antiparallel beta domain. N-linked carbohydrate appears at six sites in the glycoprotein dimer, revealing the basis for lysosomal transport via the mannose-6-phosphate receptor. To understand how the enzyme cleaves galactose from glycoproteins and glycolipids, we also determined the structure of the complex of alpha-GAL with its catalytic product. The catalytic mechanism of the enzyme is revealed by the location of two aspartic acid residues (D170 and D231), which act as a nucleophile and an acid/base, respectively. As a point mutation in alpha-GAL can lead to Fabry disease, we have catalogued and plotted the locations of 245 missense and nonsense mutations in the three-dimensional structure. The structure of human alpha-GAL brings Fabry disease into the realm of molecular diseases, where insights into the structural basis of the disease phenotypes might help guide the clinical treatment of patients.
+
The line below this paragraph, {{ABSTRACT_PUBMED_15003450}}, adds the Publication Abstract to the page
 +
(as it appears on PubMed at http://www.pubmed.gov), where 15003450 is the PubMed ID number.
 +
-->
 +
{{ABSTRACT_PUBMED_15003450}}
==Disease==
==Disease==
Line 32: Line 36:
[[Category: Glycosidase]]
[[Category: Glycosidase]]
[[Category: Lysosomal enzyme]]
[[Category: Lysosomal enzyme]]
-
''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Sat May 3 07:03:10 2008''
+
 
 +
''Page seeded by [http://oca.weizmann.ac.il/oca OCA ] on Tue Jul 29 15:14:54 2008''

Revision as of 12:14, 29 July 2008

Image:1r47.png

Template:STRUCTURE 1r47

Contents

Structure of human alpha-galactosidase

Template:ABSTRACT PUBMED 15003450

Disease

Known disease associated with this structure: Fabry disease OMIM:[300644], Fabry disease, cardiac variant OMIM:[300644]

About this Structure

1R47 is a Single protein structure of sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

The molecular defect leading to Fabry disease: structure of human alpha-galactosidase., Garman SC, Garboczi DN, J Mol Biol. 2004 Mar 19;337(2):319-35. PMID:15003450

Page seeded by OCA on Tue Jul 29 15:14:54 2008

Proteopedia Page Contributors and Editors (what is this?)

OCA

Retrieved from "http://52.214.119.220/wiki/index.php/1r47"
Personal tools