1ark: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
No edit summary |
||
| Line 2: | Line 2: | ||
===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== | ||
| Line 10: | Line 16: | ||
==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.]] | ||