2lvc: Difference between revisions
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{{STRUCTURE_2lvc| PDB=2lvc | SCENE= }} | {{STRUCTURE_2lvc| PDB=2lvc | SCENE= }} | ||
===Solution NMR Structure of Ig like domain (805-892) of Obscurin-like protein 1 from Homo sapiens, Northeast Structural Genomics Consortium (NESG) Target HR8578K=== | ===Solution NMR Structure of Ig like domain (805-892) of Obscurin-like protein 1 from Homo sapiens, Northeast Structural Genomics Consortium (NESG) Target HR8578K=== | ||
==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== | ||
[[2lvc]] 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=2LVC OCA]. | [[2lvc]] 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=2LVC OCA]. | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Acton, T B.]] | [[Category: Acton, T B.]] | ||
