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2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
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Floor 6, Suite 620
20700 44th Avenue W
Lynnwood, WA 98036
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Tel: +1 (206) 374-1102
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ACY1 / Aminoacylase 1
aminoacylase 1
ACY1 / Aminoacylase 1 is a cytosolic, homodimeric, zinc-binding enzyme that catalyzes the hydrolysis of acylated L-amino acids to L-amino acids and an acyl group, and has been postulated to function in the catabolism and salvage of acylated amino acids. This gene is located on chromosome 3p21.1, a region reduced to homozygosity in small-cell lung cancer (SCLC), and its expression has been reported to be reduced or undetectable in SCLC cell lines and tumors. The amino acid sequence of human aminoacylase-1 is highly homologous to the porcine counterpart, and this enzyme is the first member of a new family of zinc-binding enzymes. Mutations in this gene cause aminoacylase-1 deficiency, a metabolic disorder characterized by central nervous system defects and increased urinary excretion of N-acetylated amino acids. Alternative splicing of this gene results in multiple transcript variants. Read-through transcription also exists between this gene and the upstream ABHD14A (abhydrolase domain containing 14A) gene, as represented in GeneID:100526760. A related pseudogene has been identified on chromosome 18.
| Gene Name: | aminoacylase 1 |
| Family/Subfamily: | Protease , Metallopeptidase M20 |
| Synonyms: | ACY1, Aminoacylase-1, ACY-1, ACY1D, Acylase, Acylase I, Aminoacylase 1, Aminoacylase, Aminoacylase I |
| Target Sequences: | NM_000666 NP_000657.1 Q03154 |
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