Short Description: This gene encodes 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. [provided by RefSeq, Nov 2010]. More information related to gene Aminoacylase 1.
Synonyms and alternative names related to Aminoacylase 1
aminoacylase 1 (ACY1)
aminoacylase 1 (acy1)
aminoacylase 1, gene 1 S homeolog (acy1.1.S)
aminoacylase 1, gene 1 (acy1.1)
aminoacylase 1 (Acy1)
1110014J22Rik
ACY-1
Acy-1
acy1
ACY1
Acy1a
Acy1b
acy1d
ACY1D
acylase
si:zfos-226g1.1
zgc:55605
zgc:76955
Gene-IDs for different species
Protein level used designations for Aminoacylase 1
aminoacylase-1
aminoacylase 1
N-acyl-L-amino-acid amidohydrolase
acylase
ACY IA
ACY IB
ACY-1A
ACY-1B
aminoacylase-1A
aminoacylase-1B
ACY-1
N-acylamino acid aminohydrolase (Aminoacylase 1)
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