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Aminoacylase 2 deficiency - also known as Canavan's disease - is another rare disease caused by a mutation in the ASPA gene (on chromosome 17) that leads to a deficiency in the enzyme aminoacylase 2. Aminoacylase 2 is known for the fact that it can hydrolyze N-acetylaspartate while aminoacylase 1 cannot. [17]
Aminoacylase-1 is a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids.
Aspartoacylase is a hydrolytic enzyme (EC 3.5.1.15, also called aminoacylase II, ASPA and other names [a]) that in humans is encoded by the ASPA gene. ASPA catalyzes the deacylation of N -acetyl-l-aspartate ( N-acetylaspartate) into aspartate and acetate .
Aminoacylase 1 (ACY1: EC 3.5.14) is a zinc binding enzyme which hydrolyzes N-acetyl amino acids into the free amino acid and acetic acid. Of the N-acetyl amino hydrolyzing enzymes, aminoacylase 1 is the most common. [citation needed] The ACY1 gene is located on the short arm of chromosome 3 (3p21.2). [citation needed]
It is caused by a deficiency of the enzyme aminoacylase 2, [4] and is one of a group of genetic diseases referred to as leukodystrophies. It is characterized by degeneration of myelin in the phospholipid layer insulating the axon of a neuron and is associated with a gene located on human chromosome 17.
Ribbon diagram of a protease (TEV protease) complexed with its peptide substrate in black with catalytic residues in red.(. A protease (also called a peptidase, proteinase, or proteolytic enzyme) [1] is an enzyme that catalyzes proteolysis, breaking down proteins into smaller polypeptides or single amino acids, and spurring the formation of new protein products. [2]
The systematic name of this enzyme class is N-long-chain-fatty-acyl-L-glutamate amidohydrolase. Other names in common use include long-chain aminoacylase, long-chain-fatty-acyl-glutamate deacylase, long-chain acylglutamate amidase, and N-acyl-D-glutamate deacylase.
235606 Ensembl ENSG00000164062 ENSMUSG00000032590 UniProt P13798 Q8R146 RefSeq (mRNA) NM_001640 NM_146226 RefSeq (protein) NP_001631 NP_666338 Location (UCSC) Chr 3: 49.67 – 49.68 Mb Chr 9: 107.96 – 107.97 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Acylamino-acid-releasing enzyme is an enzyme that in humans is encoded by the APEH gene. This gene encodes the enzyme ...
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