2e6p
From Proteopedia
| Line 1: | Line 1: | ||
| - | [[Image:2e6p.png|left|200px]] | ||
| - | |||
{{STRUCTURE_2e6p| PDB=2e6p | SCENE= }} | {{STRUCTURE_2e6p| PDB=2e6p | SCENE= }} | ||
| - | |||
===Solution structure of the Ig-like domain (714-804) from human Obscurin-like protein 1=== | ===Solution structure of the Ig-like domain (714-804) 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== | ||
| Line 11: | Line 10: | ||
==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 10:44, 24 March 2013
Contents |
Solution structure of the Ig-like domain (714-804) from human Obscurin-like protein 1
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
2e6p is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
See Also
Reference
- ↑ 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
Categories: 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
