3v8o
From Proteopedia
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{{STRUCTURE_3v8o| PDB=3v8o | SCENE= }} | {{STRUCTURE_3v8o| PDB=3v8o | SCENE= }} | ||
===Human Filamin C Ig - like Domains 4 and 5=== | ===Human Filamin C Ig - like Domains 4 and 5=== | ||
| + | {{ABSTRACT_PUBMED_24469451}} | ||
==Disease== | ==Disease== | ||
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==About this Structure== | ==About this Structure== | ||
| - | [[3v8o]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/ | + | [[3v8o]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=3V8O OCA]. |
==Reference== | ==Reference== | ||
| - | <references group="xtra"/><references/> | + | <ref group="xtra">PMID:024469451</ref><references group="xtra"/><references/> |
| - | [[Category: | + | [[Category: Human]] |
[[Category: Sethi, R.]] | [[Category: Sethi, R.]] | ||
[[Category: Ylanne, J.]] | [[Category: Ylanne, J.]] | ||
Revision as of 04:00, 13 February 2014
Contents |
Human Filamin C Ig - like Domains 4 and 5
Template:ABSTRACT PUBMED 24469451
Disease
[FLNC_HUMAN] Defects in FLNC are the cause of myopathy myofibrillar type 5 (MFM5) [MIM: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.[1] Defects in FLNC are the cause of myopathy distal type 4 (MPD4) [MIM: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.[2]
Function
[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
3v8o is a 2 chain structure with sequence from Human. Full crystallographic information is available from OCA.
Reference
- Sethi R, Seppala J, Tossavainen H, Ylilauri M, Ruskamo S, Pentikainen OT, Pentikainen U, Permi P, Ylanne J. A Novel Structural Unit in the N-Terminal Region of Filamins. J Biol Chem. 2014 Jan 27. PMID:24469451 doi:http://dx.doi.org/10.1074/jbc.M113.537456
- ↑ Vorgerd M, van der Ven PF, Bruchertseifer V, Lowe T, Kley RA, Schroder R, Lochmuller H, Himmel M, Koehler K, Furst DO, Huebner A. A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy. Am J Hum Genet. 2005 Aug;77(2):297-304. Epub 2005 May 31. PMID:15929027 doi:10.1086/431959
- ↑ Duff RM, Tay V, Hackman P, Ravenscroft G, McLean C, Kennedy P, Steinbach A, Schoffler W, van der Ven PF, Furst DO, Song J, Djinovic-Carugo K, Penttila S, Raheem O, Reardon K, Malandrini A, Gambelli S, Villanova M, Nowak KJ, Williams DR, Landers JE, Brown RH Jr, Udd B, Laing NG. Mutations in the N-terminal actin-binding domain of filamin C cause a distal myopathy. Am J Hum Genet. 2011 Jun 10;88(6):729-40. Epub 2011 May 27. PMID:21620354 doi:10.1016/j.ajhg.2011.04.021
