2lu7 | pdb_00002lu7
From Proteopedia
Solution NMR Structure of Ig like domain (1277-1357) of Obscurin-like protein 1 from Homo sapiens, Northeast Structural Genomics Consortium (NESG) Target HR8578D
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
2lu7 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
Proteopedia Page Contributors and Editors (what is this?)
Categories:
- Homo sapiens
- Acton, T B.
- Eletsky, A.
- Everett, J K.
- Janjua, H.
- Kohan, E.
- Lee, D.
- Montelione, G T.
- NESG, Northeast Structural Genomics Consortium.
- Pulavarti, S.
- Satyamoorthy, B.
- Sukumaran, D K.
- Szyperski, T.
- Xiao, R.
- Nesg
- Northeast structural genomics consortium
- Protein structure initiative
- Psi-biology
- Structural genomic
- Structural protein
