Aspartoacylase (H-93) Antibody: sc-98734

Aspartoacylase Background Information
Aspartoacylase, also known as ASPA, ACY2 or ASP, is a 313 amino acid protein that is expressed in liver, lung and kidney tissue, as well as in skeletal muscle and in cerebral white matter. Existing as a homodimer, Aspartoacylase functions to catalyze the deacetylation of N-acetylaspartic acid (NAA) (a protein whose hydrolysis is crucial to maintenance of intact white matter) to produce acetate and L-aspartate. Defects in the gene encoding Aspartoacylase are the cause of Canavan disease (CAND), which is a rare neurodegenerative condition that is characterized by white matter vacuolization and demeylination, resulting in a spongy deterioration of brain tissue. CAND is generally characterized by atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental retardation, megalocephaly and death.