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Aminoacylase 2 Proteins (ACY2)

ACY2 encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate.

list all proteins Gene Name GeneID UniProt
Human ACY2 ACY2 443 P45381
Mouse ACY2 ACY2 11484 Q8R3P0
Rat ACY2 ACY2 79251 Q9R1T5
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More Proteins for Aminoacylase 2 (ACY2) Interaction Partners

Human Aminoacylase 2 (ACY2) interaction partners

  1. report of 2 Egyptian sibling patients suspected of Canavan disease (CD); study revealed homozygosity for substitution T530C (Ile177Thr) in exon 4 of the ASPA (show ASPA Proteins) gene in both sibs; substitution T530C (Ile177Thr) results in a novel missense mutation causing a CD phenotype with severe clinical characteristics

  2. Four ASPA (show ASPA Proteins) missense mutations associated with Canavan disease are structurally characterized.

  3. Definitive evidence is presented to show that the recombinantly-expressed human aspartoacylase (show ASPA Proteins) is not a glycoprotein.

  4. This is the first case report of ASPA (show ASPA Proteins) mutation studies in Canavan disease from Indian subcontinent.

  5. a novel mutation Y88X within the aspartoacylase (show ASPA Proteins) gene in a consanguineous family with an affected child diagnosed as Canavan disease.

  6. Human aspartoacylase (show ASPA Proteins) gene expression was high not only in brain and kidney, but also in lung and liver.

  7. Gene ASPA (show ASPA Proteins) (NM_000049) was undertaken to sequence for mutation analysis.

  8. We report on an Italian female patient with Canavan disease due to a missense mutation of the aspartoacylase (show ASPA Proteins) gene and a 17p13.3 chromosomal microdeletion

  9. the ASPA (show ASPA Proteins) gene was analysed in 22 unrelated non-Jewish patients with Canavan disease, and 24 different mutations were found

  10. Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase (show ASPA Proteins) gene

Mouse (Murine) Aminoacylase 2 (ACY2) interaction partners

  1. Gata6 (show GATA6 Proteins) regulates differentiation, metabolism, and survival of resident peritoneal macrophages through aspartoacylase (show ASPA Proteins).

  2. aspartoacylase (show ASPA Proteins) is proposed here to support lipid synthesis and energy metabolism via the provision of substrate for both cellular processes during early postnatal development

  3. Intracellular vacuolisation in astrocytes coincides with axonal swellings in cerebellum and brain stem of aspa (show ASPA Proteins)(lacZ/lacZ (show GLB1 Proteins)) mutants indicating that astroglia may act as an osmolyte buffer in the aspa (show ASPA Proteins)-deficient CNS

  4. Aspa (show ASPA Proteins) defects were associated with increased levels of acetylated histone H3 (show HIST3H3 Proteins), decreased chromatin compaction and increased GFAP (show GFAP Proteins) protein, a marker for astrogliosis. Early in postnatal development ASPA (show ASPA Proteins) defic affects oligodendrocyte maturation and myelination

  5. Death of OLs, neurons, and astrocytes was identified in every region of the aspartoacylase (show ASPA Proteins) KO brain. These findings support involvement of ASPA (show ASPA Proteins) in CNS development and function.

  6. ASPA (show ASPA Proteins) gene defect in the mouse leads to spinal cord pathology; these changes may be involved in the cause of the physiological/behavioral abnormalities seen in the knockout mouse.

  7. normal hydrolysis of N-acetylaspartic acid is affected by aspartoacylase (show ASPA Proteins) activity seen in the type 2 diabetes model mouse

  8. we now present immunoblot, proteomic, and biochemical evidence that the membrane-bound form of ASPA (show ASPA Proteins) is intrinsic to purified myelin membranes.

  9. Nur7( Q193X) is a nonsense mutation in the mouse aspartoacylase (show ASPA Proteins) gene that causes spongy degeneration of the CNS.

Aminoacylase 2 (ACY2) Protein Profile

Protein Summary

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.

Gene names and symbols associated with Aminoacylase 2 Proteins (ACY2)

  • aspartoacylase (ASPA)
  • aspartoacylase (Aspa)
  • aspartoacylase (aspa)
  • ACY-2 protein
  • Acy2 protein
  • ASP protein
  • nur7 protein
  • zgc:171507 protein

Protein level used designations for Aminoacylase 2 Proteins (ACY2)

ACY-2 , aminoacylase-2 , aspartoacylase (Canavan disease) , aminoacylase 2 , aspartoacylase (aminoacylase) 2 , Aminoacylase-2

GENE ID SPECIES
100173374 Pongo abelii
443 Homo sapiens
11484 Mus musculus
79251 Rattus norvegicus
557232 Danio rerio
417609 Gallus gallus
611064 Canis lupus familiaris
100142661 Sus scrofa
509432 Bos taurus
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