Hydrolytic enzyme encoded on human chromosome 17
Aspartoacylase is a hydrolytic enzyme (EC 3.5.1.15 , also called aminoacylase II , ASPA and other names[ a] ASPA gene . ASPA catalyzes the deacylation of N -acetyl-l-aspartateN-acetylaspartate) into aspartate and acetate .[ 7] [ 8] nucleophile in a mechanism analogous to many other zinc-dependent hydrolases.[ 9] brain , where it controls the levels of N -acetyl-l-aspartate. Mutations that result in loss of aspartoacylase activity are associated with Canavan disease , a rare autosomal recessive neurodegenerative disease.[ 10]
^ a b c GRCh38: Ensembl release 89: ENSG00000108381 – Ensembl , May 2017^ a b c GRCm38: Ensembl release 89: ENSMUSG00000020774 – Ensembl , May 2017^ "Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ "Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .^ Bitto E, Bingman CA, Wesenberg GE, McCoy JG, Phillips GN (January 2007). "Structure of aspartoacylase, the brain enzyme impaired in Canavan disease" . Proceedings of the National Academy of Sciences of the United States of America . 104 (2): 456–61. doi :10.1073/pnas.0607817104 PMC 1766406 PMID 17194761 . ^ "Aspartoacylase (EC 3.5.1.15)" . biocyc.org . Archived from the original on 22 July 2022. Retrieved 2022-07-22 .^ Birnbaum SM (1955). [12] Aminoacylase . Methods in Enzymology. Vol. 2. pp. 115–119. doi :10.1016/S0076-6879(55)02176-9 . ISBN 9780121818029 ^ Birnbaum SM, Levintow L, Kingsley RB, Greenstein JP (January 1952). "Specificity of amino acid acylases" . The Journal of Biological Chemistry . 194 (1): 455–70. doi :10.1016/S0021-9258(18)55898-1 PMID 14927637 . ^ Le Coq J, An HJ, Lebrilla C, Viola RE (May 2006). "Characterization of human aspartoacylase: the brain enzyme responsible for Canavan disease" . Biochemistry . 45 (18): 5878–84. doi :10.1021/bi052608w . PMC 2566822 PMID 16669630 . ^ Hershfield JR, Pattabiraman N, Madhavarao CN, Namboodiri MA (May 2007). "Mutational analysis of aspartoacylase: implications for Canavan disease" . Brain Research . 1148 : 1–14. doi :10.1016/j.brainres.2007.02.069 . PMC 1933483 PMID 17391648 . Cite error: There are <ref group=lower-alpha> tags or {{efn}} templates on this page, but the references will not show without a {{reflist|group=lower-alpha}} template or {{notelist}} template (see the help page ).
