2yxm

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[[Image:2yxm.png|left|200px]]
 
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{{STRUCTURE_2yxm| PDB=2yxm | SCENE= }}
{{STRUCTURE_2yxm| PDB=2yxm | SCENE= }}
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===Crystal structure of I-set domain of human Myosin Binding ProteinC===
===Crystal structure of I-set domain of human Myosin Binding ProteinC===
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==Disease==
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[[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>
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==Function==
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[[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==
[[2yxm]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2YXM OCA].
[[2yxm]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2YXM OCA].
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==Reference==
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<references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Chen, L.]]
[[Category: Chen, L.]]

Revision as of 16:28, 24 March 2013

Template:STRUCTURE 2yxm

Contents

Crystal structure of I-set domain of human Myosin Binding ProteinC

Disease

[MYPC1_HUMAN] Defects in MYBPC1 are the cause of arthrogryposis, distal, type 1B (DA1B) [MIM: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.[1] Note=Defects in MYBPC1 may be a cause of autosomal recessive lethal congenital contractural syndrome (LCCS), a severe, neonatally lethal form of arthrogryposis.[2]

Function

[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

2yxm is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  1. ↑ Gurnett CA, Desruisseau DM, McCall K, Choi R, Meyer ZI, Talerico M, Miller SE, Ju JS, Pestronk A, Connolly AM, Druley TE, Weihl CC, Dobbs MB. Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum Mol Genet. 2010 Apr 1;19(7):1165-73. doi: 10.1093/hmg/ddp587. Epub 2010 Jan, 2. PMID:20045868 doi:10.1093/hmg/ddp587
  2. ↑ Markus B, Narkis G, Landau D, Birk RZ, Cohen I, Birk OS. Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1. Hum Mutat. 2012 Oct;33(10):1435-8. doi: 10.1002/humu.22122. Epub 2012 Jun 7. PMID:22610851 doi:10.1002/humu.22122

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