P45381
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UniProt Related Accession #
NCBI Official Full Name
Aspartoacylase (Canavan disease)
NCBI Official Synonym Full Names
aspartoacylase
NCBI Official Synonym Symbols
NCBI Protein Information
aspartoacylase
UniProt Protein Name
Aspartoacylase
UniProt Synonym Protein Names
Aminoacylase-2; ACY-2
UniProt Synonym Gene Names
UniProt Entry Name
ACY2_HUMAN
NCBI Summary for ASPA
This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]
UniProt Comments for ASPA
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: Amino Acid Metabolism - histidine; Amino Acid Metabolism - alanine, aspartate and glutamate; EC 3.5.1.15; Hydrolase
Chromosomal Location of Human Ortholog: 17p13.3
Cellular Component: cytoplasm; nucleus
Molecular Function: protein binding; metal ion binding; hydrolase activity, acting on ester bonds; aspartoacylase activity; aminoacylase activity
Biological Process: myelination in the central nervous system; aspartate catabolic process; positive regulation of oligodendrocyte differentiation
Disease: Canavan Disease
Research Articles on ASPA
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Products associated with anti-ASPA antibody
Pathways associated with anti-ASPA antibody
Diseases associated with anti-ASPA antibody
Organs/Tissues associated with anti-ASPA antibody
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