4f7b

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'''Unreleased structure'''
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{{STRUCTURE_4f7b| PDB=4f7b | SCENE= }}
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===Structure of the lysosomal domain of limp-2===
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The entry 4f7b is ON HOLD until Oct 03 2014
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==Disease==
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[[http://www.uniprot.org/uniprot/SCRB2_HUMAN SCRB2_HUMAN]] Unverricht-Lundborg disease;Gaucher disease type 1;Action myoclonus - renal failure syndrome. The disease is caused by mutations affecting the gene represented in this entry. Genetic variants in SCARB2 can act as modifier of the phenotypic expression and severity of Gaucher disease.
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Authors: Neculai, D., Ravichandran, M., Neculai, M., Carlos, J., Bountra, C., Edwards, A.M., Arrowsmith, C.H., Dhe-Paganon, D., Structural Genomics Consortium (SGC)
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==Function==
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[[http://www.uniprot.org/uniprot/SCRB2_HUMAN SCRB2_HUMAN]] Acts as a lysosomal receptor for glucosylceramidase (GBA) targeting.<ref>PMID:18022370</ref>
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Description: Structure of a exoplasmic domain of a scavenger receptor
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==About this Structure==
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[[4f7b]] is a 6 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4F7B OCA].
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==Reference==
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<references group="xtra"/><references/>
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[[Category: Homo sapiens]]
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[[Category: Arrowsmith, C H.]]
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[[Category: Bountra, C.]]
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[[Category: Dhe-Paganon, D.]]
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[[Category: Edwards, A M.]]
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[[Category: Neculai, D.]]
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[[Category: Neculai, M.]]
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[[Category: Pizzaro, J.]]
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[[Category: Ravichandran, M.]]
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[[Category: SGC, Structural Genomics Consortium.]]
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[[Category: Atherosclerosis]]
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[[Category: Cell adhesion]]
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[[Category: Endocytosis]]
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[[Category: Lipid transport]]
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[[Category: Lipoprotein]]
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[[Category: Scavenger receptor]]
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[[Category: Sgc]]
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[[Category: Structural genomic]]
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[[Category: Structural genomics consortium]]

Revision as of 06:36, 10 October 2013

Template:STRUCTURE 4f7b

Contents

Structure of the lysosomal domain of limp-2

Disease

[SCRB2_HUMAN] Unverricht-Lundborg disease;Gaucher disease type 1;Action myoclonus - renal failure syndrome. The disease is caused by mutations affecting the gene represented in this entry. Genetic variants in SCARB2 can act as modifier of the phenotypic expression and severity of Gaucher disease.

Function

[SCRB2_HUMAN] Acts as a lysosomal receptor for glucosylceramidase (GBA) targeting.[1]

About this Structure

4f7b is a 6 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  1. ↑ Reczek D, Schwake M, Schroder J, Hughes H, Blanz J, Jin X, Brondyk W, Van Patten S, Edmunds T, Saftig P. LIMP-2 is a receptor for lysosomal mannose-6-phosphate-independent targeting of beta-glucocerebrosidase. Cell. 2007 Nov 16;131(4):770-83. PMID:18022370 doi:http://dx.doi.org/10.1016/j.cell.2007.10.018

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OCA

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