2wp3 | pdb_00002wp3
From Proteopedia
CRYSTAL STRUCTURE OF THE TITIN M10-OBSCURIN LIKE 1 IG COMPLEX
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
- ↑ 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
