4fci: Difference between revisions
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{{STRUCTURE_4fci| PDB=4fci | SCENE= }} | {{STRUCTURE_4fci| PDB=4fci | SCENE= }} | ||
===Crystal Structure of the Mn2+2-Human Arginase I-AGPA Complex=== | ===Crystal Structure of the Mn2+2-Human Arginase I-AGPA Complex=== | ||
{{ABSTRACT_PUBMED_22869115}} | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/ARGI1_HUMAN ARGI1_HUMAN]] Defects in ARG1 are the cause of argininemia (ARGIN) [MIM:[http://omim.org/entry/207800 207800]]; also known as hyperargininemia. Argininemia is a rare autosomal recessive disorder of the urea cycle. Arginine is elevated in the blood and cerebrospinal fluid, and periodic hyperammonemia occurs. Clinical manifestations include developmental delay, seizures, mental retardation, hypotonia, ataxia, progressive spastic quadriplegia.<ref>PMID:1463019</ref><ref>PMID:7649538</ref> | |||
==About this Structure== | ==About this Structure== | ||
[[4fci]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4FCI OCA]. | [[4fci]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=4FCI OCA]. | ||
==Reference== | |||
<references group="xtra"/><references/> | |||
[[Category: Arginase]] | [[Category: Arginase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||