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Aminoacylase 2 (ACY2)

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ASPA; ASP; Aspartoacylase(Canavan Disease)

Aminoacylase 2 (ACY2)
CCC F202
HGNC 756
MGI 87914
RGD 621693
UniProt P45381
Aspartoacylaseisan 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. Human ASPA encodes a deduced 313-amino acid protein with a molecular mass of 36 kD. It shares 92% sequence identity with the bovine protein and contains 1 potential N-glycosylation site and 5 phosphorylation sites. Northern blot analysis revealed a single 1.44-kb transcript in liver and an additional 5.4-kb transcript in other tissues tested. Expression of both transcripts was highest in skeletal muscle, followed by kidney and brain.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPF202Hu01 Recombinant Aminoacylase 2 (ACY2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Aminoacylase 2 (ACY2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Aminoacylase 2 (ACY2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Aminoacylase 2 (ACY2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Aminoacylase 2 (ACY2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPF202Mu01 Recombinant Aminoacylase 2 (ACY2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Aminoacylase 2 (ACY2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Aminoacylase 2 (ACY2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Aminoacylase 2 (ACY2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Aminoacylase 2 (ACY2) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Aminoacylase 2 (ACY2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Aminoacylase 2 (ACY2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Aminoacylase 2 (ACY2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Aminoacylase 2 (ACY2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Aminoacylase 2 (ACY2) ELISA Kit Customized Service Offer
  1. "Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease."Nat. Genet. 5:118-123(1993) [PubMed] [Europe PMC] [Abstract]
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Purification and preliminary characterization of brain aspartoacylase."Arch. Biochem. Biophys. 413:1-8(2003) [PubMed] [Europe PMC] [Abstract]
  4. "Identification of the zinc binding ligands and the catalytic residue in human aspartoacylase, an enzyme involved in Canavan disease."FEBS Lett. 580:5899-5904(2006) [PubMed] [Europe PMC] [Abstract]
  5. "Examination of the mechanism of human brain aspartoacylase through the binding of an intermediate analogue."Biochemistry 47:3484-3492(2008) [PubMed] [Europe PMC] [Abstract]
  6. "Structure of aspartoacylase, the brain enzyme impaired in Canavan disease."Proc. Natl. Acad. Sci. U.S.A. 104:456-461(2007) [PubMed] [Europe PMC] [Abstract]
  7. "Canavan disease: mutations among Jewish and non-Jewish patients."Am. J. Hum. Genet. 55:34-41(1994) [PubMed] [Europe PMC] [Abstract]
  8. "The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients."Am. J. Hum. Genet. 57:572-580(1995) [PubMed] [Europe PMC] [Abstract]
  9. "Novel (Cys152 > Arg) missense mutation in an Arab patient with Canavan disease."Hum. Mutat. 5:269-271(1995) [PubMed] [Europe PMC] [Abstract]
  10. "Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease."Am. J. Hum. Genet. 59:95-102(1996) [PubMed] [Europe PMC] [Abstract]
  11. "Missense mutation (I143T) in a Japanese patient with Canavan disease."Hum. Mutat. Suppl. 1:S308-S309(1998) [PubMed] [Europe PMC] [Abstract]
  12. "Novel missense mutation (Y231C) in a Turkish patient with Canavan disease."Am. J. Med. Genet. 87:273-275(1999) [PubMed] [Europe PMC] [Abstract]
  13. "The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients."J. Inherit. Metab. Dis. 22:531-534(1999) [PubMed] [Europe PMC] [Abstract]
  14. "Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population."Eur. J. Hum. Genet. 8:557-560(2000) [PubMed] [Europe PMC] [Abstract]
  15. "Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease."J. Inherit. Metab. Dis. 25:557-570(2002) [PubMed] [Europe PMC] [Abstract]
  16. "Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease."J. Med. Genet. 39:E55-E55(2002) [PubMed] [Europe PMC] [Abstract]