| Modification Notes |
Aspartoacylase-3 (ACY3), also known as aminoacylase-3, Aspartoacylase-2, acylase III or HCBP1 (Hepatitis C virus core-binding protein 1), is a 319 amino acid protein that deacetylates mercapturic acids in the proximal tubules of the kidney, where it is predominantly expressed. A member of the aspA/astE family and Aspartoacylase subfamily, Aspartoacylase-3 localizes to the cytoplasm of S2 and S3 proximal tubules and to the apical domain of S1 proximal tubules. Aspartoacylase-3 is also expressed at low levels in stomach, testis, heart, brain, lung and liver, and may function as an HCV (Hepatitis C virus) core binding protein. Aspartoacylase-3 is encoded by a gene that maps to human chromosome 11, which houses over 1,400 genes and comprises nearly 4% of the human genome. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are associated with defects in genes that maps to chromosome 11. |