Aspa - aspartoacylase Gene

Also Known as Acy2; nur7; Acy-2

Species: Mus musculus

Gene Type: protein coding
Gene ID: 11484

Summary

This gene encodes an enzyme that deacteylates N-acetyl-L-aspartic acid (NAA) in the brain to yield acetate and L-aspartate. In humans, alterations in neuronal NAA concentration are associated with many neurodegenerative diseases (decrease associated with epilepsy, multiple sclerosis, myotrophic lateral sclerosis, and Alzheimer's disease; increase associated with Canavan disease). In mouse, mutations in this gene, which cause accumulation of NAA, result in demyelination and spongy degeneration in the CNS and serve as a pathophysiological model for Canavan disease. [provided by RefSeq, Dec 2012]

Aspa Products (1)

mRNA Protein Name
NM_023113.5 NP_075602.2 aspartoacylase
Molecular Function GO Annotation Evidence References Source
enables aspartoacylase activity IDA
IDA: Inferred from direct assay
12706335 MGI
enables protein binding IPI
IPI: Inferred from physical interaction
22284616 MGI
Biological Process GO Annotation Evidence References Source
involved in acetate metabolic process IGI
IGI: Inferred from genetic interaction
28077719 MGI
involved in aspartate metabolic process IGI
IGI: Inferred from genetic interaction
28077719 MGI
Cellular Component GO Annotation Evidence References Source
is active in cytosol IDA
IDA: Inferred from direct assay
12706335 MGI
located in cytosol IDA
IDA: Inferred from direct assay
22284616 MGI
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

aspartoacylase

  • aminoacylase-2

  • aspartoacylase (aminoacylase) 2

Orthologs Information

Species Symbol Source ID
Homo sapiens Aspa NCBI NCBI:443