Disease-gene associations mined from literature

Literature associating ASPA and early infantile epileptic encephalopathy 24

ASPA [ENSP00000263080]

Aminoacylase-2; 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.

Synonyms:  ASPA-001,  ASPA-002,  ASPA-003,  ASPA-004,  I3L0T3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM