4f7b

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Template:STRUCTURE 4f7b

Contents 1 Structure of the lysosomal domain of limp-2 2 Disease 3 Function 4 About this Structure 5 Reference

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