2lu7

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Template:STRUCTURE 2lu7

Contents 1 Solution NMR Structure of Ig like domain (1277-1357) of Obscurin-like protein 1 from Homo sapiens, Northeast Structural Genomics Consortium (NESG) Target HR8578D 2 Disease 3 About this Structure 4 Reference

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

1. ↑ 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