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2cpc
From Proteopedia
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{{STRUCTURE_2cpc| PDB=2cpc | SCENE= }} | {{STRUCTURE_2cpc| PDB=2cpc | SCENE= }} | ||
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===Solution structure of RSGI RUH-030, an Ig like domain from human cDNA=== | ===Solution structure of RSGI RUH-030, an Ig like domain from human cDNA=== | ||
| + | ==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== | ||
[[2cpc]] 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=2CPC OCA]. | [[2cpc]] 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=2CPC OCA]. | ||
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| + | ==Reference== | ||
| + | <references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Hayashi, F.]] | [[Category: Hayashi, F.]] | ||
Revision as of 20:00, 24 March 2013
Contents |
Solution structure of RSGI RUH-030, an Ig like domain from human cDNA
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
2cpc is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
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. | Hirota, H. | Momen, A Z.M Ruhul. | Onuki, H. | RSGI, RIKEN Structural Genomics/Proteomics Initiative. | Yokoyama, S. | Ig domain | Immune system | Immunoglobulin domain | National project on protein structural and functional analyse | Nppsfa | Riken structural genomics/proteomics initiative | Rsgi | Structural genomic
