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A cytosolic, homodimeric, zinc-binding enzyme (EC, 408 aa) involved in the hydrolysis of most N-acylated or N-acetylated amino acids, possibly a salvage mechanism. Expression of the gene is reportedly reduced or undetectable in small-cell lung carcinoma lines and tumours. Aminoacylase-1 deficiency causes a metabolic disorder in which there is encephalopathy, psychomotor delay, muscular hypotonia and frequent epileptic seizures. Aspartoacylase (EC, aminoacylase-2, 313 aa) hydrolyses N-acetyl-l-aspartic acid and deficiency leads to Canavan's disease.

Subjects: Medicine and Health — Chemistry.

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