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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== | ||
| Line 22: | Line 10: | ||
==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]] | ||
Revision as of 10:01, 25 March 2013
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.
Template:ABSTRACT PUBMED 16141327
DiseaseDisease
[ARGI1_HUMAN] Defects in ARG1 are the cause of argininemia (ARGIN) [MIM: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.[1][2]
About this StructureAbout this Structure
2aeb is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
ReferenceReference
- ↑ Di Costanzo L, Sabio G, Mora A, Rodriguez PC, Ochoa AC, Centeno F, Christianson DW. Crystal structure of human arginase I at 1.29-A resolution and exploration of inhibition in the immune response. Proc Natl Acad Sci U S A. 2005 Sep 13;102(37):13058-63. Epub 2005 Sep 2. PMID:16141327
- ↑ Cama E, Colleluori DM, Emig FA, Shin H, Kim SW, Kim NN, Traish AM, Ash DE, Christianson DW. Human arginase II: crystal structure and physiological role in male and female sexual arousal. Biochemistry. 2003 Jul 22;42(28):8445-51. PMID:12859189 doi:http://dx.doi.org/10.1021/bi034340j
- ↑ Uchino T, Haraguchi Y, Aparicio JM, Mizutani N, Higashikawa M, Naitoh H, Mori M, Matsuda I. Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. Am J Hum Genet. 1992 Dec;51(6):1406-12. PMID:1463019
- ↑ Uchino T, Snyderman SE, Lambert M, Qureshi IA, Shapira SK, Sansaricq C, Smit LM, Jakobs C, Matsuda I. Molecular basis of phenotypic variation in patients with argininemia. Hum Genet. 1995 Sep;96(3):255-60. PMID:7649538