2dzj: Difference between revisions
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{{STRUCTURE_2dzj| PDB=2dzj | SCENE= }} | {{STRUCTURE_2dzj| PDB=2dzj | SCENE= }} | ||
===2DZJ/Solution Structure of the N-terminal Ubiquitin-like Domain in Human Synaptic Glycoprotein SC2=== | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/GPSN2_HUMAN GPSN2_HUMAN]] Defects in TECR are the cause of mental retardation autosomal recessive type 14 (MRT14) [MIM:[http://omim.org/entry/614020 614020]]. Mental retardation is characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period.<ref>PMID:21212097</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/GPSN2_HUMAN GPSN2_HUMAN]] Reduces trans-2,3-stearoyl-CoA to stearoyl-CoA of long and very long chain fatty acids.<ref>PMID:12482854</ref> | |||
==About this Structure== | ==About this Structure== | ||
[[2dzj]] 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=2DZJ OCA]. | [[2dzj]] 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=2DZJ OCA]. | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Harada, T.]] | [[Category: Harada, T.]] | ||
