3lp4

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Template:STRUCTURE 3lp4

Contents

Crystal structure of human arginase I in complex with L-LYSINE, 1.90A Resolution.

Template:ABSTRACT PUBMED 20153713

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

3lp4 is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.

Reference

  • Di Costanzo L, Ilies M, Thorn KJ, Christianson DW. Inhibition of human arginase I by substrate and product analogues. Arch Biochem Biophys. 2010 Apr 15;496(2):101-8. Epub 2010 Feb 12. PMID:20153713 doi:10.1016/j.abb.2010.02.004
  1. ↑ 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
  2. ↑ 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

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OCA

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