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gene: ACY1

id95
symbolACY1
organismHomo sapiens
full nameaminoacylase 1
summaryThis 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]
variant-disease

NM_000666.3(ACY1):c.360-1G>A AND Aminoacylase 1 deficiency

NM_000666.3(ACY1):c.527-17C>A AND not specified

NM_000666.3(ACY1):c.657+15A>G AND not specified

NM_000666.3(ACY1):c.589C>T (p.Arg197Trp) AND Aminoacylase 1 deficiency

NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) AND not provided

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