2wp3

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[[Image:2wp3.png|left|200px]]
 
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{{STRUCTURE_2wp3| PDB=2wp3 | SCENE= }}
{{STRUCTURE_2wp3| PDB=2wp3 | SCENE= }}
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===CRYSTAL STRUCTURE OF THE TITIN M10-OBSCURIN LIKE 1 IG COMPLEX===
===CRYSTAL STRUCTURE OF THE TITIN M10-OBSCURIN LIKE 1 IG COMPLEX===
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{{ABSTRACT_PUBMED_20133654}}
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{{ABSTRACT_PUBMED_20133654}}
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==Disease==
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[[http://www.uniprot.org/uniprot/OBSL1_HUMAN OBSL1_HUMAN]] Defects in OBSL1 are the cause of 3M syndrome type 2 (3M2) [MIM:[http://omim.org/entry/612921 612921]]. An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies.<ref>PMID:19481195</ref>
==About this Structure==
==About this Structure==
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==Reference==
==Reference==
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<ref group="xtra">PMID:020133654</ref><references group="xtra"/>
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<ref group="xtra">PMID:020133654</ref><references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Non-specific serine/threonine protein kinase]]
[[Category: Non-specific serine/threonine protein kinase]]

Revision as of 20:52, 24 March 2013

Template:STRUCTURE 2wp3

Contents

CRYSTAL STRUCTURE OF THE TITIN M10-OBSCURIN LIKE 1 IG COMPLEX

Template:ABSTRACT PUBMED 20133654

Disease

[OBSL1_HUMAN] Defects in OBSL1 are the cause of 3M syndrome type 2 (3M2) [MIM:612921]. An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies.[1]

About this Structure

2wp3 is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

See Also

Reference

  • Pernigo S, Fukuzawa A, Bertz M, Holt M, Rief M, Steiner RA, Gautel M. Structural insight into M-band assembly and mechanics from the titin-obscurin-like-1 complex. Proc Natl Acad Sci U S A. 2010 Feb 1. PMID:20133654
  1. ↑ Hanson D, Murray PG, Sud A, Temtamy SA, Aglan M, Superti-Furga A, Holder SE, Urquhart J, Hilton E, Manson FD, Scambler P, Black GC, Clayton PE. The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. Am J Hum Genet. 2009 Jun;84(6):801-6. doi: 10.1016/j.ajhg.2009.04.021. Epub 2009 , May 28. PMID:19481195 doi:10.1016/j.ajhg.2009.04.021

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