DISEASES

Disease-gene associations mined from literature

Literature associating ASPA and hypomyelinating leukodystrophy 2

ASPA [ENSP00000263080]

Aspartoacylase; 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:  I3L0T3,  I3L4M0,  P45381,  Q6FH48,  I3L0T3p ...

Linkouts:  STRING  Pharos  UniProt  OMIM