QuickView for ASPA (gene)

Gene Symbol:

ASPA Homo sapiens

Full name:

aspartoacylase

Synonyms:

ACY2, ASP, aspartoacylase, ACY-2, aminoacylase 2

Genomic Location:

Chr 17: 3326046-3349450

Description:

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 transcr...

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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.

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Orthologs:

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

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

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

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Cytogenetic Map:

17p13.2

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