Dystroglycan: Difference between revisions
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Michal Harel (talk | contribs) New page: <StructureSection load='5llk' size='340' side='right' caption='Caption for this structure' scene=''> == Function == Dystroglycan (DG) is a central component of the dystrophin-glycoprot... |
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<StructureSection load='5llk' size='340' side='right' caption='Human α-dystroglycan complex with ethylelene glycol (PDB code [[5llk]])' scene=''> | |||
<StructureSection load='5llk' size='340' side='right' caption=' | |||
== Function == | == Function == | ||
Dystroglycan (DG) is a central component of the dystrophin-glycoprotein complex which plays a critical role in a variety of muscular dystrophies<ref>PMID:9175728</ref>. α- and β-dystroglycan constitute a membrane-spanning complex that connects the extracellular matrix to the cytoskeleton<ref>PMID:16410545</ref>. DG is a cell-surface laminin receptor which is expressed in cells contacting basement membrane in developing and adult tissue<ref>PMID:9865703</ref>. | '''Dystroglycan''' (DG) is a central component of the dystrophin-glycoprotein complex which plays a critical role in a variety of muscular dystrophies<ref>PMID:9175728</ref>. α- and β-dystroglycan constitute a membrane-spanning complex that connects the extracellular matrix to the cytoskeleton<ref>PMID:16410545</ref>. DG is a cell-surface laminin receptor which is expressed in cells contacting basement membrane in developing and adult tissue<ref>PMID:9865703</ref>. | ||
== Disease == | == Disease == | ||
Muscle-eye-brain disease patients exhibit deficiency in α-DG<ref>PMID:11883957</ref>. There is a relationship between aberrant glycosylation of α-DG and congenital muscular dystrophies<ref>PMID:16550917</ref>. | Muscle-eye-brain disease patients exhibit deficiency in α-DG<ref>PMID:11883957</ref>. There is a relationship between aberrant glycosylation of α-DG and congenital muscular dystrophies<ref>PMID:16550917</ref>. | ||
== Structural highlights == | == Structural highlights == | ||
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[[1u2c]] – mDG – mouse <br /> | [[1u2c]] – mDG – mouse <br /> | ||
[[5n30]], [[4wiq]], [[5n4h]] – mDG N-terminal (mutant) <br /> | [[5n30]], [[4wiq]], [[5n4h]] – mDG N-terminal (mutant) <br /> | ||
[[5llk]] – hDG – human <br /> | [[5llk]] – hDG (mutant) – human <br /> | ||
[[1eg3]] – hDG WW domain <br /> | [[1eg3]] – hDG WW domain <br /> | ||
[[1eg4]] – hDG WW domain + β-DG peptide<br /> | [[1eg4]] – hDG WW domain + β-DG peptide<br /> | ||
