3thh: Difference between revisions
Jump to navigation
Jump to search
No edit summary |
No edit summary |
||
| Line 1: | Line 1: | ||
{{STRUCTURE_3thh| PDB=3thh | SCENE= }} | {{STRUCTURE_3thh| PDB=3thh | SCENE= }} | ||
===Crystal structure of the Co2+2-HAI-ABH complex=== | ===Crystal structure of the Co2+2-HAI-ABH complex=== | ||
{{ABSTRACT_PUBMED_21870783}} | |||
==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== | ||
| Line 22: | Line 10: | ||
==Reference== | ==Reference== | ||
<ref group="xtra">PMID:021870783</ref><references group="xtra"/> | <ref group="xtra">PMID:021870783</ref><references group="xtra"/><references/> | ||
[[Category: Arginase]] | [[Category: Arginase]] | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
Revision as of 00:54, 25 March 2013
Crystal structure of the Co2+2-HAI-ABH complexCrystal structure of the Co2+2-HAI-ABH complex
Template:ABSTRACT PUBMED 21870783
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
3thh is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
ReferenceReference
- ↑ D'Antonio EL, Christianson DW. Crystal structures of complexes with cobalt-reconstituted human arginase I. Biochemistry. 2011 Sep 20;50(37):8018-27. Epub 2011 Aug 26. PMID:21870783 doi:10.1021/bi201101t
- ↑ 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