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===SH3 DOMAIN FROM HUMAN NEBULIN, NMR, 15 STRUCTURES=== | ===SH3 DOMAIN FROM HUMAN NEBULIN, NMR, 15 STRUCTURES=== | ||
{{ABSTRACT_PUBMED_9514727}} | {{ABSTRACT_PUBMED_9514727}} | ||
==Disease== | |||
[[http://www.uniprot.org/uniprot/NEBU_HUMAN NEBU_HUMAN]] Defects in NEB are the cause of nemaline myopathy type 2 (NEM2) [MIM:[http://omim.org/entry/256030 256030]]. A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-or rod-like structures in muscle fibers on histologic examination.<ref>PMID:10051637</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/NEBU_HUMAN NEBU_HUMAN]] This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin. | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:009514727</ref><references group="xtra"/> | <ref group="xtra">PMID:009514727</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Pastore, A.]] | [[Category: Pastore, A.]] | ||
Revision as of 04:53, 25 March 2013
SH3 DOMAIN FROM HUMAN NEBULIN, NMR, 15 STRUCTURESSH3 DOMAIN FROM HUMAN NEBULIN, NMR, 15 STRUCTURES
Template:ABSTRACT PUBMED 9514727
DiseaseDisease
[NEBU_HUMAN] Defects in NEB are the cause of nemaline myopathy type 2 (NEM2) [MIM:256030]. A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-or rod-like structures in muscle fibers on histologic examination.[1]
FunctionFunction
[NEBU_HUMAN] This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the membrane system associated with the myofibrils. Binds and stabilize F-actin.
About this StructureAbout this Structure
1ark is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
See AlsoSee Also
ReferenceReference
- ↑ Politou AS, Millevoi S, Gautel M, Kolmerer B, Pastore A. SH3 in muscles: solution structure of the SH3 domain from nebulin. J Mol Biol. 1998 Feb 13;276(1):189-202. PMID:9514727 doi:10.1006/jmbi.1997.1521
- ↑ Pelin K, Hilpela P, Donner K, Sewry C, Akkari PA, Wilton SD, Wattanasirichaigoon D, Bang ML, Centner T, Hanefeld F, Odent S, Fardeau M, Urtizberea JA, Muntoni F, Dubowitz V, Beggs AH, Laing NG, Labeit S, de la Chapelle A, Wallgren-Pettersson C. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2305-10. PMID:10051637