4f7b: Difference between revisions
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{{STRUCTURE_4f7b| PDB=4f7b | SCENE= }} | |||
===Structure of the lysosomal domain of limp-2=== | |||
The entry | ==Disease== | ||
[[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. | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/SCRB2_HUMAN SCRB2_HUMAN]] Acts as a lysosomal receptor for glucosylceramidase (GBA) targeting.<ref>PMID:18022370</ref> | |||
==About this Structure== | |||
[[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]. | |||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | |||
[[Category: Arrowsmith, C H.]] | |||
[[Category: Bountra, C.]] | |||
[[Category: Dhe-Paganon, D.]] | |||
[[Category: Edwards, A M.]] | |||
[[Category: Neculai, D.]] | |||
[[Category: Neculai, M.]] | |||
[[Category: Pizzaro, J.]] | |||
[[Category: Ravichandran, M.]] | |||
[[Category: SGC, Structural Genomics Consortium.]] | |||
[[Category: Atherosclerosis]] | |||
[[Category: Cell adhesion]] | |||
[[Category: Endocytosis]] | |||
[[Category: Lipid transport]] | |||
[[Category: Lipoprotein]] | |||
[[Category: Scavenger receptor]] | |||
[[Category: Sgc]] | |||
[[Category: Structural genomic]] | |||
[[Category: Structural genomics consortium]] | |||