QuickView for ASPA;jsessionid=438DEBF90C0B7DFDA7DE480E60455C28 (gene)

Gene Symbol:

Aspa Mus musculus

Full name:

aspartoacylase

Synonyms:

Acy-2, Acy2, nur7, aspartoacylase, aminoacylase-2, aspartoacylase (aminoacylase) 2

Genomic Location:

Chr 11: 73118490-73138136

Description:

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 a...

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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.

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Orthologs:

Homo sapiens ,  Rattus norvegicus ,  Macaca mulatta ,  Gallus gallus ,  Pan troglodytes ,  Bos taurus ,  Danio rerio ,  Canis lupus familiaris

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

AAANWWTGC_UNKNOWN ,  IRF1_01 ,  IRF2_01 ,  IK2_01 ,  HFH1_01 ,  LYF1_01 ,  MYB_Q6 ,  HNF1_C ,  SRF_C ,  ISRE_01 ,  HFH8_01 ,  POU3F2_01 ,  POU3F2_02 ,  PITX2_Q2 ,  ICSBP_Q6 ,  IRF1_Q6 ,  HNF1_Q6 ,  SRF_Q4 ,  SRF_Q5_01 ,  TGCTGAY_UNKNOWN ,  TTANTCA_UNKNOWN ,  WTGAAAT_UNKNOWN ,  YNGTTNNNATT_UNKNOWN ,  CAGCTG_AP4_Q5 ,  TTGTTT_FOXO4_01 ,  RTAAACA_FREAC2_01 ,  STTTCRNTTT_IRF_Q6 ,  TGGAAA_NFAT_Q4_01 ,  GGATTA_PITX2_Q2

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