3e6k
From Proteopedia
Contents |
X-ray structure of Human Arginase I: the mutant D183A in complex with ABH
Template:ABSTRACT PUBMED 19093830
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
3e6k is a 2 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Shishova EY, Di Costanzo L, Emig FA, Ash DE, Christianson DW. Probing the specificity determinants of amino acid recognition by arginase. Biochemistry. 2009 Jan 13;48(1):121-31. PMID:19093830 doi:10.1021/bi801911v
- ↑ 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
