2pll
From Proteopedia
Contents |
Crystal structure of perdeuterated human arginase I
Template:ABSTRACT PUBMED 17562323
Disease
[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 Structure
2pll is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Di Costanzo L, Moulin M, Haertlein M, Meilleur F, Christianson DW. Expression, purification, assay, and crystal structure of perdeuterated human arginase I. Arch Biochem Biophys. 2007 Sep 1;465(1):82-9. Epub 2007 May 21. PMID:17562323 doi:10.1016/j.abb.2007.04.036
- ↑ 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
