2jku: Difference between revisions
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{{STRUCTURE_2jku| PDB=2jku | SCENE= }} | {{STRUCTURE_2jku| PDB=2jku | SCENE= }} | ||
===CRYSTAL STRUCTURE OF THE N-TERMINAL REGION OF THE BIOTIN ACCEPTOR DOMAIN OF HUMAN PROPIONYL-COA CARBOXYLASE=== | ===CRYSTAL STRUCTURE OF THE N-TERMINAL REGION OF THE BIOTIN ACCEPTOR DOMAIN OF HUMAN PROPIONYL-COA CARBOXYLASE=== | ||
{{ABSTRACT_PUBMED_20443544}} | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/PCCA_HUMAN PCCA_HUMAN]] Defects in PCCA are the cause of propionic acidemia type I (PA-1) [MIM:[http://omim.org/entry/606054 606054]]. PA-1 is a life-threatening disease characterized by episodic vomiting, lethargy and ketosis, neutropenia, periodic thrombocytopenia, hypogammaglobulinemia, developmental retardation, and intolerance to protein.<ref>PMID:10101253</ref><ref>PMID:12559849</ref><ref>PMID:15059621</ref><ref>PMID:10329019</ref> | |||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:020443544</ref><references group="xtra"/> | <ref group="xtra">PMID:020443544</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Propionyl-CoA carboxylase]] | [[Category: Propionyl-CoA carboxylase]] | ||
