ASPA Antibody – Goat Polyclonal

This gene encodes an enzyme that deacteylates N-acetyl-L-aspartic acid (NAA) in the brain to yield acetate and L-aspartate. In humans, alterations in neuronal NAA concentration are associated with many neurodegenerative diseases (decrease associated with epilepsy, multiple sclerosis, myotrophic lateral sclerosis, and Alzheimer's disease; increase associated with Canavan disease). In mouse, mutations in this gene, which cause accumulation of NAA, result in demyelination and spongy degeneration in the CNS and serve as a pathophysiological model for Canavan disease. [provided by RefSeq, Dec 2012]

ASPA: Catalyzes the deacetylation of N-acetylaspartic acid (NAA) to produce acetate and L-aspartate. NAA occurs in high concentration in brain and its hydrolysis NAA plays a significant part in the maintenance of intact white matter. In other tissues it act as a scavenger of NAA from body fluids. Defects in ASPA are the cause of Canavan disease (CAND); also known as spongy degeneration of the brain. CAND is a rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. The clinical features are onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average. Belongs to the AspA/AstE family. Aspartoacylase subfamily.

Protein type: EC 3.5.1.15; Amino Acid Metabolism - histidine; Amino Acid Metabolism - alanine, aspartate and glutamate; Hydrolase

Cellular Component: cytoplasm; cytosol; nucleus

Molecular Function: aminoacylase activity; aspartoacylase activity; hydrolase activity; hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides; hydrolase activity, acting on ester bonds; metal ion binding; protein binding

Biological Process: acetate metabolic process; metabolic process; positive regulation of oligodendrocyte differentiation