Gene: ASPA

Alternate names for this Gene: ACY2|ASP

Gene 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 is located in Chromosome: 17

Location in Chromosome : 17p13.2

Description of this Gene: aspartoacylase

Type of Gene: protein-coding

Gene: SPATA22

Alternate names for this Gene: NYD-SP20|NYDSP20

Gene Summary:

Gene is located in Chromosome: 17

Location in Chromosome : 17p13.2

Description of this Gene: spermatogenesis associated 22

Type of Gene: protein-coding

rs1014551540 in ASPA;SPATA22 gene and Canavan Disease PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

PMID 18197057 2008 Carrier screening in individuals of Ashkenazi Jewish descent.

PMID 9452117 1998 Missense mutation (I143T) in a Japanese patient with Canavan disease.

PMID 8659549 1996 Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.

PMID 28101991 2017 Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

PMID 7599639 1995 Novel (cys152 > arg) missense mutation in an Arab patient with Canavan disease.

PMID 8252036 1993 Cloning of the human aspartoacylase cDNA and a common missense mutation in Canavan disease.

PMID 10407784 1999 The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.

PMID 12205125 2002 Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease.

PMID 10909858 2000 Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.

PMID 24036223 2013 New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion.

PMID 12706335 2003 Purification and preliminary characterization of brain aspartoacylase.

PMID 8023850 1994 Canavan disease: mutations among Jewish and non-Jewish patients.

PMID 7668285 1995 The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.

PMID 12638939 2002 Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.

PMID 10564886 1999 Novel missense mutation (Y231C) in a turkish patient with canavan disease.

PMID 20129749 2010 Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease.

PMID 16802711 2006 Mutation analysis of the aspartoacylase gene in non-Jewish patients with Canavan disease.

PMID 16854607 2006 Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease.

PMID 26586007 2016 Atypical clinical and radiological course of a patient with Canavan disease.

PMID 23253610 2012 Long-term follow-up after gene therapy for canavan disease.

PMID 17391648 2007 Finally, expression of several previously tested (E24G, D68A, C152W, E214X, D249V, E285A, and A305E) and untested (H21P, A57T, I143T, P183H, M195R, K213E/G274R, G274R, and F295S) Canavan Disease mutations resulted in undetectable enzyme activity, and only E285A and P183H showed wild-type aspartoacylase protein levels.

PMID 23233226 2012 Computational analysis of deleterious missense mutations in aspartoacylase that cause Canavan's disease.

PMID 16138249 2005 Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease.

PMID 22219087 2012 A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.

PMID 17999961 2008 Novel mutation of aspartoacylase gene in a Turkish patient with Canavan disease.

PMID 17391648 2007 Finally, expression of several previously tested (E24G, D68A, C152W, E214X, D249V, E285A, and A305E) and untested (H21P, A57T, I143T, P183H, M195R, K213E/G274R, G274R, and F295S) Canavan Disease mutations resulted in undetectable enzyme activity, and only E285A and P183H showed wild-type aspartoacylase protein levels.

PMID 22850825 2013 Relationship between enzyme properties and disease progression in Canavan disease.

PMID 17194761 2007 Structure of aspartoacylase, the brain enzyme impaired in Canavan disease.

PMID 21907889 2011 Canavan disease: a novel mutation.

PMID 22750302 2012 Expression of aspartoacylase (ASPA) and Canavan disease.

PMID 17027983 2006 Identification of the zinc binding ligands and the catalytic residue in human aspartoacylase, an enzyme involved in Canavan disease.

rs756198538 in ASPA;SPATA22 gene and Canavan Disease, Familial Form PMID 10407784 1999 The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients.

PMID 10909858 2000 Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.

PMID 12638939 2002 Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease.

PMID 16854607 2006 Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease.

PMID 23253610 2012 Long-term follow-up after gene therapy for canavan disease.

rs923375 in ASPA;SPATA22 gene and Myopia, Degenerative PMID 23049088 2012 A genome-wide association study provides evidence for association of chromosome 8p23 (MYP10) and 10q21.1 (MYP15) with high myopia in the French Population.