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MGP000226

Record overview

MGPD IDMGP000226
Gene ID443
SpeciesHomo sapiens (Human)
Gene Nameaspartoacylase
Gene Symbol ASPA
SynonymsASP; ACY2;
Alternate namesaspartoacylase; ACY-2; aminoacylase 2; aminoacylase-2;
Chromosome17
Map Location17p13.3
EC Number3.5.1.15
SummaryThis 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]
OrthologsView orthologs and multiple alignments for ASPA

Proteins

aspartoacylase
Refseq ID:NP_001121557
Protein GI:189339202
UniProt ID:P45381
mRNA ID:NM_001128085
Length:313
RefSeq Status:
MTSCHIAEEHIQKVAIFGGTHGNELTGVFLVKHWLENGAEIQRTGLEVKPFITNPRAVKKCTRYIDCDLNRIFDLENLGKKMSEDLPYEVRRAQEINHLF
GPKDSEDSYDIIFDLHNTTSNMGCTLILEDSRNNFLIQMFHYIKTSLAPLPCYVYLIEHPSLKYATTRSIAKYPVGIEVGPQPQGVLRADILDQMRKMIK
HALDFIHHFNEGKEFPPCAIEVYKIIEKVDYPRDENGEIAAIIHPNLQDQDWKPLHPGDPMFLTLDGKTIPLGGDCTVYPVFVNEAAYYEKKEAFAKTTK
LTLNAKSIRCCLH
 
aspartoacylase
Refseq ID:NP_000040
Protein GI:4557335
UniProt ID:P45381
mRNA ID:NM_000049
Length:313
RefSeq Status:
Protein sequence is identical to GI:189339202 (mRNA isoform)
 
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