2e6q: Difference between revisions
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{{STRUCTURE_2e6q| PDB=2e6q | SCENE= }} | {{STRUCTURE_2e6q| PDB=2e6q | SCENE= }} | ||
===Solution structure of the Ig-like domain (615-713) from human Obscurin-like protein 1=== | ===Solution structure of the Ig-like domain (615-713) from human Obscurin-like protein 1=== | ||
==Disease== | |||
[[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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==See Also== | ==See Also== | ||
*[[Obscurin|Obscurin]] | *[[Obscurin|Obscurin]] | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Hayashi, F.]] | [[Category: Hayashi, F.]] | ||
Revision as of 01:41, 25 March 2013
Solution structure of the Ig-like domain (615-713) from human Obscurin-like protein 1Solution structure of the Ig-like domain (615-713) from human Obscurin-like protein 1
DiseaseDisease
[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 StructureAbout this Structure
2e6q is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
See AlsoSee Also
ReferenceReference
- ↑ 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
Proteopedia Page Contributors and Editors (what is this?)Proteopedia Page Contributors and Editors (what is this?)
OCACategories:
- Homo sapiens
- Hayashi, F.
- Qin, X R.
- RSGI, RIKEN Structural Genomics/Proteomics Initiative.
- Suetake, T.
- Yokoyama, S.
- Ig-like domain
- National project on protein structural and functional analyse
- Nppsfa
- Obscurin-like protein 1
- Riken structural genomics/proteomics initiative
- Rsgi
- Structural genomic
- Structural protein