2dav: Difference between revisions
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{{STRUCTURE_2dav| PDB=2dav | SCENE= }} | {{STRUCTURE_2dav| PDB=2dav | SCENE= }} | ||
===Solution structure of the first ig-like domain of Myosin-binding protein C, slow-type=== | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/MYPC1_HUMAN MYPC1_HUMAN]] Defects in MYBPC1 are the cause of arthrogryposis, distal, type 1B (DA1B) [MIM:[http://omim.org/entry/614335 614335]]. A form of distal arthrogryposis, a disease characterized by congenital joint contractures that mainly involve two or more distal parts of the limbs, in the absence of a primary neurological or muscle disease. Distal arthrogryposis type 1 is characterized largely by camptodactyly and clubfoot. Hypoplasia and/or absence of some interphalangeal creases is common. The shoulders and hips are less frequently affected.<ref>PMID:20045868</ref> Note=Defects in MYBPC1 may be a cause of autosomal recessive lethal congenital contractural syndrome (LCCS), a severe, neonatally lethal form of arthrogryposis.<ref>PMID:22610851</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/MYPC1_HUMAN MYPC1_HUMAN]] Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role. | |||
==About this Structure== | ==About this Structure== | ||
[[2dav]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2DAV OCA]. | [[2dav]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2DAV OCA]. | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Hayashi, F.]] | [[Category: Hayashi, F.]] | ||