2d7n: Difference between revisions
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{{STRUCTURE_2d7n| PDB=2d7n | SCENE= }} | {{STRUCTURE_2d7n| PDB=2d7n | SCENE= }} | ||
===Solution structure of the 16th Filamin domain from human Filamin C=== | ===Solution structure of the 16th Filamin domain from human Filamin C=== | ||
==Disease== | |||
[[http://www.uniprot.org/uniprot/FLNC_HUMAN FLNC_HUMAN]] Defects in FLNC are the cause of myopathy myofibrillar type 5 (MFM5) [MIM:[http://omim.org/entry/609524 609524]]. A neuromuscular disorder, usually with an adult onset, characterized by focal myofibrillar destruction and pathological cytoplasmic protein aggregations, and clinical features of a limb-girdle myopathy.<ref>PMID:15929027</ref> Defects in FLNC are the cause of myopathy distal type 4 (MPD4) [MIM:[http://omim.org/entry/614065 614065]]. MPD4 is a slowly progressive muscular disorder characterized by distal muscle weakness and atrophy affecting the upper and lower limbs. Onset occurs around the third to fourth decades of life, and patients remain ambulatory even after long disease duration. Muscle biopsy shows non-specific changes with no evidence of rods, necrosis, or inflammation.<ref>PMID:21620354</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/FLNC_HUMAN FLNC_HUMAN]] Muscle-specific filamin, which plays a central role in muscle cells, probably by functioning as a large actin-cross-linking protein. May be involved in reorganizing the actin cytoskeleton in response to signaling events, and may also display structural functions at the Z lines in muscle cells. Critical for normal myogenesis and for maintaining the structural integrity of the muscle fibers. | |||
==About this Structure== | ==About this Structure== | ||
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*[[Filamin|Filamin]] | *[[Filamin|Filamin]] | ||
*[[Group:MUZIC:FilaminC|MUZIC:FilaminC]] | *[[Group:MUZIC:FilaminC|MUZIC:FilaminC]] | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Inoue, M.]] | [[Category: Inoue, M.]] | ||
