Gene: [17p13/ASPA] aspartoacylase (aminoacylase 2, Canavan disease); Canavan disease (spongy degeneration of the brain);
FUN | The reaction catalyzed: N-acyl-L-aspartate + H(2)O = a fatty acid anion + L-aspartate." |
REF | SEQ,MUT "Kaul R &: Hum Mut, 5, 269-271, 1995 SEQ,MUT "Kaul R &: AJHG, 55, 34-41, 1994a LOC "Kaul R &: Genomics, 21, 364-370, 1994b SEQ "Kaul R &: Nature Genet, 5, 118-123, 1993 |
SWI | SWISSPROT: P45381 |
KEY | aac |
CLA | coding, basic |
LOC | 17 p13 |
MIM | MIM: 271900 |
EZN | ENZYME: 3.5.1.15 |