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 f... See more...

Aliases for ASPA Gene

Aliases for ASPA Gene

  • Aspartoacylase 2 3 4 5
  • ACY2 2 3 4
  • ASP 2 3 4
  • Aminoacylase 2 2 3
  • EC 3.5.1.15 4 50
  • ACY-2 3 4
  • Aspartoacylase (Aminoacylase 2, Canavan Disease) 2
  • Canavan Disease 2
  • Aminoacylase-2 4
  • ASPA 5

External Ids for ASPA Gene

Previous GeneCards Identifiers for ASPA Gene

  • GC17P003693
  • GC17P003330
  • GC17P003585
  • GC17P003326
  • GC17P003269
  • GC17P003376

Summaries for ASPA Gene

Entrez Gene Summary for ASPA Gene

  • 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]

GeneCards Summary for ASPA Gene

ASPA (Aspartoacylase) is a Protein Coding gene. Diseases associated with ASPA include Canavan Disease and Leukodystrophy. Among its related pathways are Amino acid synthesis and interconversion (transamination) and Metabolism. Gene Ontology (GO) annotations related to this gene include hydrolase activity, acting on ester bonds and aminoacylase activity. An important paralog of this gene is ACY3.

UniProtKB/Swiss-Prot Summary for ASPA Gene

  • 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.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ASPA Gene

Genomics for ASPA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ASPA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J003473 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 260.7 +2.9 2942 3.4 CEBPA ATF3 YY1 HOMEZ THAP11 FOXA2 KDM6A PRDM1 MAFF RXRA ASPA HSALNG0113960 HSALNG0113961 SPATA22 MG828730-025 MK280269-020
GH17J003471 Promoter 0.3 EPDnew 250.7 -0.5 -535 0.1 ASPA HSALNG0113958 HSALNG0113960 piR-32214-264 SPATA22 OR1E2 MG828730-025 MK280269-020
GH17J003528 Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 32.2 +57.8 57827 4.4 ZMYM3 ZFP64 KDM6A SMAD4 SAP130 YY1 DMAP1 TEAD3 BCL6 ZNF205 lnc-SPATA22-1 TRPV3 ASPA OR1E2 CAMKK1 TRPV1 RF00017-2006 SPATA22 MG828730-025 MK280269-020
GH17J003556 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 7.2 +85.8 85775 3.1 BCLAF1 SP1 IKZF1 MYC POLR2A BCL11A ZNF592 SIN3A TARDBP TRIM22 TRPV3 lnc-TRPV1-2 SHPK ASPA MG828730-025 MK280269-020 TRPV1
GH17J003386 Promoter/Enhancer 0.7 FANTOM5 Ensembl 13.1 -86.0 -85973 0.8 POLR2A OR1R1P OR3A2 lnc-OR3A2-1 piR-57460-264 SPATA22 ASPA OR3A3 OR1E2 OR3A1 OR1E1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ASPA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ASPA

Top Transcription factor binding sites by QIAGEN in the ASPA gene promoter:
  • AML1a
  • Cdc5
  • Elk-1
  • Evi-1
  • LyF-1
  • YY1

Genomic Locations for ASPA Gene

Latest Assembly
chr17:3,472,374-3,503,405
(GRCh38/hg38)
Size:
31,032 bases
Orientation:
Plus strand

Previous Assembly
chr17:3,377,404-3,406,699
(GRCh37/hg19 by Entrez Gene)
Size:
29,296 bases
Orientation:
Plus strand

chr17:3,375,668-3,406,713
(GRCh37/hg19 by Ensembl)
Size:
31,046 bases
Orientation:
Plus strand

Genomic View for ASPA Gene

Genes around ASPA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ASPA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ASPA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ASPA Gene

Proteins for ASPA Gene

  • Protein details for ASPA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P45381-ACY2_HUMAN
    Recommended name:
    Aspartoacylase
    Protein Accession:
    P45381

    Protein attributes for ASPA Gene

    Size:
    313 amino acids
    Molecular mass:
    35735 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105;
    Quaternary structure:
    • Homodimer.

    Three dimensional structures from OCA and Proteopedia for ASPA Gene

neXtProt entry for ASPA Gene

Selected DME Specific Peptides for ASPA Gene

P45381:
  • KPFITNPRAV
  • DLHNTTSNMG
  • PGDPMFLTLDG
  • TLILEDS
  • LKYATTRSIAK
  • GGTHGNE
  • FNEGKEFPPCAIEVYKI
  • GPQPQGV
  • KCTRYID
  • PYEVRRAQE
  • NEAAYYEK

Post-translational modifications for ASPA Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ASPA Gene

Domains & Families for ASPA Gene

Gene Families for ASPA Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for ASPA Gene

InterPro:
Blocks:
  • Succinylglutamate desuccinylase/aspartoacylase

Suggested Antigen Peptide Sequences for ASPA Gene

GenScript: Design optimal peptide antigens:
  • Aminoacylase-2 (ACY2_HUMAN)
  • cDNA, FLJ93347, Homo sapiens aspartoacylase (aminoacylase 2, Canavan disease)(ASPA), mRNA (Q6FH48_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P45381

UniProtKB/Swiss-Prot:

ACY2_HUMAN :
  • Belongs to the AspA/AstE family. Aspartoacylase subfamily.
Family:
  • Belongs to the AspA/AstE family. Aspartoacylase subfamily.
genes like me logo Genes that share domains with ASPA: view

Function for ASPA Gene

Molecular function for ASPA Gene

UniProtKB/Swiss-Prot Function:
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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H2O + N-acyl-L-aspartate = a carboxylate + L-aspartate; Xref=Rhea:RHEA:10872, ChEBI:CHEBI:15377, ChEBI:CHEBI:29067, ChEBI:CHEBI:29991, ChEBI:CHEBI:58497; EC=3.5.1.15; Evidence={ECO:0000269|PubMed:17027983, ECO:0000269|PubMed:24036223, ECO:0000269|PubMed:28101991};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: Vmax=1.2 nmol/h/mg enzyme {ECO:0000269|PubMed:28101991};
GENATLAS Biochemistry:
aspartoacylase,36kDa,expressed in skeletal muscle,kidney,brain,hydrolyzing preferentially N-acetyl-L-aspartic acid

Enzyme Numbers (IUBMB) for ASPA Gene

Phenotypes From GWAS Catalog for ASPA Gene

Gene Ontology (GO) - Molecular Function for ASPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004046 aminoacylase activity TAS 8252036
GO:0005515 protein binding IPI 22284616
GO:0016787 hydrolase activity IEA --
GO:0016788 hydrolase activity, acting on ester bonds IEA --
GO:0016811 hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides IBA 21873635
genes like me logo Genes that share ontologies with ASPA: view
genes like me logo Genes that share phenotypes with ASPA: view

Human Phenotype Ontology for ASPA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ASPA Gene

MGI Knock Outs for ASPA:
  • Aspa Aspa<tm1a(EUCOMM)Wtsi>
  • Aspa Aspa<tm1b(EUCOMM)Wtsi>
  • Aspa Aspa<tm1Mata>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASPA

No data available for Transcription Factor Targets and HOMER Transcription for ASPA Gene

Localization for ASPA Gene

Subcellular locations from UniProtKB/Swiss-Prot for ASPA Gene

Cytoplasm. Nucleus.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ASPA gene
Compartment Confidence
cytosol 5
nucleus 4
cytoskeleton 2
mitochondrion 2
plasma membrane 1
extracellular 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ASPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA,TAS --
genes like me logo Genes that share ontologies with ASPA: view

Pathways & Interactions for ASPA Gene

genes like me logo Genes that share pathways with ASPA: view

Gene Ontology (GO) - Biological Process for ASPA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006533 aspartate catabolic process TAS 8252036
GO:0008652 cellular amino acid biosynthetic process TAS --
GO:0022010 central nervous system myelination IEA --
GO:0048714 positive regulation of oligodendrocyte differentiation IEA --
genes like me logo Genes that share ontologies with ASPA: view

No data available for SIGNOR curated interactions for ASPA Gene

Drugs & Compounds for ASPA Gene

(14) Drugs for ASPA Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aspartic acid Approved Nutra Target 195
Zinc Approved, Investigational Pharma Target, cofactor 1706
D-glucose Approved, Experimental, Investigational, Vet_approved Pharma Target 0
zinc acetate Approved, Investigational Pharma Target 0
Zinc chloride Approved, Investigational Pharma Target, cofactor 0

(14) Additional Compounds for ASPA Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Arachidic acid
  • Arachic acid
  • Arachidinic acid
  • Arachinsaeure
  • C20:0
  • CH3-[CH2]18-COOH
506-30-9
Heptadecanoic acid
  • 17:0
  • C17:0
  • CH3-[CH2]15-COOH
  • Heptadecoic acid
  • Heptadecylic acid
506-12-7
Heptadecanoyl CoA
  • Heptadecanoyl-coenzyme A
  • Heptadecanoate
  • Heptadecanoic acid
  • Heptadecanoic acid CoA
  • Heptadecanoyl coenzyme A
3546-17-6
N-Acetyl-L-aspartic acid
  • (S)-2-(Acetylamino)butanedioic acid
  • (S)-2-(Acetylamino)succinic acid
  • Acetyl-L-aspartic acid
  • Acetylaspartic acid
  • L-N-Acetylaspartic acid
997-55-7
N-Formyl-L-aspartate
  • N-Formyl-L-aspartic acid
  • N-Formyl-L-aspartate
genes like me logo Genes that share compounds with ASPA: view

Transcripts for ASPA Gene

mRNA/cDNA for ASPA Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ASPA

Alternative Splicing Database (ASD) splice patterns (SP) for ASPA Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b · 7c
SP1:
SP2: -
SP3:

Relevant External Links for ASPA Gene

GeneLoc Exon Structure for
ASPA

Expression for ASPA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ASPA Gene

mRNA differential expression in normal tissues according to GTEx for ASPA Gene

This gene is overexpressed in Brain - Hippocampus (x4.6), Brain - Spinal cord (cervical c-1) (x4.6), and Brain - Substantia nigra (x4.5).

Protein differential expression in normal tissues from HIPED for ASPA Gene

This gene is overexpressed in Skin (8.1) and Kidney (7.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ASPA Gene



Protein tissue co-expression partners for ASPA Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ASPA

SOURCE GeneReport for Unigene cluster for ASPA Gene:

Hs.171142

mRNA Expression by UniProt/SwissProt for ASPA Gene:

P45381-ACY2_HUMAN
Tissue specificity: Brain white matter, skeletal muscle, kidney, adrenal glands, lung and liver.

Evidence on tissue expression from TISSUES for ASPA Gene

  • Nervous system(4.6)
  • Kidney(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ASPA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • head
  • mouth
  • pharynx
  • skull
Thorax:
  • heart
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with ASPA: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for ASPA Gene

Orthologs for ASPA Gene

This gene was present in the common ancestor of chordates.

Orthologs for ASPA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ASPA 29 30
  • 99.57 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ASPA 29 30
  • 90.73 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ASPA 29 30
  • 90.38 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Aspa 29 16 30
  • 86.75 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Aspa 29
  • 85.58 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia ASPA 30
  • 77 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ASPA 30
  • 51 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ASPA 29 30
  • 76.38 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ASPA 30
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia aspa 29
  • 68.78 (n)
Zebrafish
(Danio rerio)
Actinopterygii aspa 29 30
  • 62.24 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 39 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.709 29
Species where no ortholog for ASPA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ASPA Gene

ENSEMBL:
Gene Tree for ASPA (if available)
TreeFam:
Gene Tree for ASPA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ASPA: view image
Alliance of Genome Resources:
Additional Orthologs for ASPA

Paralogs for ASPA Gene

Paralogs for ASPA Gene

(2) SIMAP similar genes for ASPA Gene using alignment to 4 proteins:

  • ACY2_HUMAN
  • I3L0T3_HUMAN
  • I3L4M0_HUMAN
  • Q6FH48_HUMAN
genes like me logo Genes that share paralogs with ASPA: view

Variants for ASPA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ASPA Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
1027632 Uncertain Significance: not specified 3,481,707(+) A/C
NM_000049.4(ASPA):c.341A>C (p.Asp114Ala)
MISSENSE_VARIANT,INTRON
839442 Conflicting Interpretations: Spongy degeneration of central nervous system 3,476,321(+) C/A
NM_000049.4(ASPA):c.162C>A (p.Asn54Lys)
MISSENSE_VARIANT,INTRON
843972 Likely Pathogenic: Spongy degeneration of central nervous system 3,476,397(+) T/C
NM_000049.4(ASPA):c.236+2T>C
844740 Uncertain Significance: Spongy degeneration of central nervous system 3,494,455(+) T/C
NM_000049.4(ASPA):c.740T>C (p.Leu247Pro)
MISSENSE_VARIANT,INTRON
849366 Uncertain Significance: Spongy degeneration of central nervous system 3,494,446(+) A/C
NM_000049.4(ASPA):c.731A>C (p.His244Pro)
MISSENSE_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ASPA Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ASPA Gene

Variant ID Type Subtype PubMed ID
esv2660206 CNV deletion 23128226
esv3892950 CNV loss 25118596
nsv1055740 CNV gain 25217958
nsv1060071 CNV loss 25217958
nsv1065489 CNV gain 25217958
nsv1116180 CNV deletion 24896259
nsv525085 CNV gain 19592680
nsv528368 CNV gain 19592680
nsv574232 CNV gain 21841781
nsv574237 CNV loss 21841781
nsv833341 CNV loss 17160897

Variation tolerance for ASPA Gene

Residual Variation Intolerance Score: 77.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.63; 31.33% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ASPA Gene

Human Gene Mutation Database (HGMD)
ASPA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ASPA
Leiden Open Variation Database (LOVD)
ASPA

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ASPA Gene

Disorders for ASPA Gene

MalaCards: The human disease database

(13) MalaCards diseases for ASPA Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
canavan disease
  • canavan-van bogaert-bertrand disease
leukodystrophy
  • leukodystrophies
fraser syndrome 3
  • frasrs3
mucinous ovarian cystadenoma
  • mucinous cystadenoma of ovary
bardet-biedl syndrome 2
  • bbs2
- elite association - COSMIC cancer census association via MalaCards
Search ASPA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ACY2_HUMAN
  • Canavan disease (CAND) [MIM:271900]: A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demyelination 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. {ECO:0000269 PubMed:10407784, ECO:0000269 PubMed:10564886, ECO:0000269 PubMed:10909858, ECO:0000269 PubMed:12205125, ECO:0000269 PubMed:12638939, ECO:0000269 PubMed:12706335, ECO:0000269 PubMed:24036223, ECO:0000269 PubMed:28101991, ECO:0000269 PubMed:7599639, ECO:0000269 PubMed:7668285, ECO:0000269 PubMed:8023850, ECO:0000269 PubMed:8252036, ECO:0000269 PubMed:8659549, ECO:0000269 PubMed:9452117}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for ASPA

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with ASPA: view

No data available for Genatlas for ASPA Gene

Publications for ASPA Gene

  1. Structure of aspartoacylase, the brain enzyme impaired in Canavan disease. (PMID: 17194761) Bitto E … Phillips GN (Proceedings of the National Academy of Sciences of the United States of America 2007) 3 4 22 25
  2. Identification of the zinc binding ligands and the catalytic residue in human aspartoacylase, an enzyme involved in Canavan disease. (PMID: 17027983) Herga S … Giardina T (FEBS letters 2006) 3 4 22 72
  3. Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease. (PMID: 8252036) Kaul R … Matalon R (Nature genetics 1993) 2 3 4 22
  4. Examination of the mechanism of human brain aspartoacylase through the binding of an intermediate analogue. (PMID: 18293939) Le Coq J … Viola RE (Biochemistry 2008) 3 4 22
  5. Purification and preliminary characterization of brain aspartoacylase. (PMID: 12706335) Moore RA … Viola RE (Archives of biochemistry and biophysics 2003) 3 4 22

Products for ASPA Gene

Sources for ASPA Gene