8e5n

Structural highlights

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]}

Function

ARGI1_HUMAN

References

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
3. ↑ Gathiaka S, Palte RL, So SS, Chai X, Richard Miller J, Kuvelkar R, Wen X, Cifelli S, Kreamer A, Liaw A, McLaren DG, Fischer C. Discovery of non-boronic acid Arginase 1 inhibitors through virtual screening and biophysical methods. Bioorg Med Chem Lett. 2023 Mar 15;84:129193. PMID:36822300 doi:10.1016/j.bmcl.2023.129193