3hr0: Difference between revisions
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{{STRUCTURE_3hr0| PDB=3hr0 | SCENE= }} | {{STRUCTURE_3hr0| PDB=3hr0 | SCENE= }} | ||
===Crystal structure of Homo sapiens Conserved Oligomeric Golgi subunit 4=== | |||
{{ABSTRACT_PUBMED_19651599}} | |||
=== | ==Disease== | ||
[[http://www.uniprot.org/uniprot/COG4_HUMAN COG4_HUMAN]] Defects in COG4 are the cause of congenital disorder of glycosylation type 2J (CDG2J) [MIM:[http://omim.org/entry/613489 613489]]. It is a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions.<ref>PMID:19651599</ref><ref>PMID:19494034</ref> | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/COG4_HUMAN COG4_HUMAN]] Required for normal Golgi function. Plays a role in SNARE-pin assembly and Golgi-to-ER retrograde transport via its interaction with SCFD1.<ref>PMID:19536132</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:019651599</ref><references group="xtra"/> | <ref group="xtra">PMID:019651599</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Hughson, F M.]] | [[Category: Hughson, F M.]] | ||
