2e6p: Difference between revisions
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{{STRUCTURE_2e6p| PDB=2e6p | SCENE= }} | {{STRUCTURE_2e6p| PDB=2e6p | SCENE= }} | ||
===Solution structure of the Ig-like domain (714-804) from human Obscurin-like protein 1=== | ===Solution structure of the Ig-like domain (714-804) from human Obscurin-like protein 1=== | ||
==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== | ||
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==See Also== | ==See Also== | ||
*[[Obscurin|Obscurin]] | *[[Obscurin|Obscurin]] | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Hayashi, F.]] | [[Category: Hayashi, F.]] | ||
