| 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. |
| Conjugation : |
HIS |
| Source : |
E. coli |
| Tissue specificity : |
Expression is highest in kidney, strong in brain and weaker in placenta and spleen. |
| Form : |
Liquid |
| Purity : |
>95% by SDS-PAGE |
| Storage buffer : |
Preservative: 0.002% Sodium AzideConstituents: 10mM Tris, 0.1% Triton X-100, pH 8.0 |
| Storage : |
Aliquot and store at -80°C. Avoid repeated freeze / thaw cycles. |
| Sequence Similarities : |
Belongs to the peptidase M20A family. |
| Gene ID : |
ACY1 aminoacylase 1 [ Homo sapiens ] |
| Official Symbol : |
ACY1 |
| Synonyms : |
ACY1; aminoacylase 1; aminoacylase-1; |
