1q7l

Structural highlights

Disease

ACY1_HUMAN Defects in ACY1 are the cause of aminoacylase-1 deficiency (ACY1D) [MIM:609924. ACY1D results in a metabolic disorder manifesting with encephalopathy, unspecific psychomotor delay, psychomotor delay with atrophy of the vermis and syringomyelia, marked muscular hypotonia or normal clinical features. Epileptic seizures are a frequent feature. All affected individuals exhibit markedly increased urinary excretion of several N-acetylated amino acids.^{[1] [2] [3] [4]}

Function

ACY1_HUMAN Involved in the hydrolysis of N-acylated or N-acetylated amino acids (except L-aspartate).^[5]

Evolutionary Conservation

Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.

See Also

• Aminoacylase 3D structures

References

1. ↑ Sass JO, Mohr V, Olbrich H, Engelke U, Horvath J, Fliegauf M, Loges NT, Schweitzer-Krantz S, Moebus R, Weiler P, Kispert A, Superti-Furga A, Wevers RA, Omran H. Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism. Am J Hum Genet. 2006 Mar;78(3):401-9. Epub 2006 Jan 18. PMID:16465618 doi:S0002-9297(07)62380-5
2. ↑ Van Coster RN, Gerlo EA, Giardina TG, Engelke UF, Smet JE, De Praeter CM, Meersschaut VA, De Meirleir LJ, Seneca SH, Devreese B, Leroy JG, Herga S, Perrier JP, Wevers RA, Lissens W. Aminoacylase I deficiency: a novel inborn error of metabolism. Biochem Biophys Res Commun. 2005 Dec 23;338(3):1322-6. Epub 2005 Nov 2. PMID:16274666 doi:S0006-291X(05)02421-6
3. ↑ Sass JO, Olbrich H, Mohr V, Hart C, Woldseth B, Krywawych S, Bjurulf B, Lakhani PK, Buchdahl RM, Omran H. Neurological findings in aminoacylase 1 deficiency. Neurology. 2007 Jun 12;68(24):2151-3. PMID:17562838 doi:10.1212/01.wnl.0000264933.56204.e8
4. ↑ Sommer A, Christensen E, Schwenger S, Seul R, Haas D, Olbrich H, Omran H, Sass JO. The molecular basis of aminoacylase 1 deficiency. Biochim Biophys Acta. 2011 Jun;1812(6):685-90. doi: 10.1016/j.bbadis.2011.03.005., Epub 2011 Mar 23. PMID:21414403 doi:10.1016/j.bbadis.2011.03.005
5. ↑ Lindner HA, Lunin VV, Alary A, Hecker R, Cygler M, Menard R. Essential roles of zinc ligation and enzyme dimerization for catalysis in the aminoacylase-1/M20 family. J Biol Chem. 2003 Nov 7;278(45):44496-504. Epub 2003 Aug 21. PMID:12933810 doi:http://dx.doi.org/10.1074/jbc.M304233200