2aeb: Difference between revisions
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{{STRUCTURE_2aeb| PDB=2aeb | SCENE= }} | {{STRUCTURE_2aeb| PDB=2aeb | SCENE= }} | ||
===Crystal structure of human arginase I at 1.29 A resolution and exploration of inhibition in immune response.=== | ===Crystal structure of human arginase I at 1.29 A resolution and exploration of inhibition in immune response.=== | ||
{{ABSTRACT_PUBMED_16141327}} | |||
==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> | |||
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==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
<ref group="xtra">PMID:016141327</ref><ref group="xtra">PMID:012859189</ref>< | <ref group="xtra">PMID:016141327</ref><ref group="xtra">PMID:012859189</ref><references group="xtra"/><references/> | ||
[[Category: Arginase]] | [[Category: Arginase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||