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

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

rs104894548 in SPATA22;ASPA gene and Canavan Disease PMID 8659549 1996 Identification and expression of eight novel mutations among non-Jewish patients with Canavan disease.

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

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

PMID 10564886 1999 Novel missense mutation (Y231C) in a turkish patient 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 9452117 1998 Missense mutation (I143T) in a Japanese patient with Canavan disease.

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

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

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

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

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

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

PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

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

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

PMID 12706335 2003 Purification and preliminary characterization of brain aspartoacylase.

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 25107638 2015 Canavan disease - unusual imaging features in a child with mild clinical presentation.

PMID 23971085 2013 Abstracts of ICIEM 2013, the 12th International Congress of Inborn Errors of Metabolism. Barcelona, Spain. September 3-6, 2013.

PMID 18070137 2008 Homozygosity for mutation G212A of the gene for aspartoacylase is associated with atypical form of Canavan's disease.

PMID 16437572 2006 Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.

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

PMID 17391648 2007 Mutational analysis of aspartoacylase: implications for Canavan disease.

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

PMID 12638939 2002 Also, patients with certain other novel mutations, including C152W, E214X, X314W, and frame shift mutations in both alleles, developed clinical manifestations at an earlier age than in classical 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 25003821 2014 Aspartoacylase catalytic deficiency as the cause of Canavan disease: a structural perspective.

PMID 8037206 1994 The frequency of the C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel.

PMID 27927234 2016 Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature.

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

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

PMID 7668285 1995 Homozygosity for the A305E mutation was identified in patients with both the severe and the mild forms of Canavan disease.

PMID 16217711 2005 We present here a patient with a mild form of Canavan disease confirmed with the absent ASPA activity, atypical MRI findings, related to compound heterozygosity for a missense mutation, p.Tyr288Cys, and the known pan-European mutation, the p.Ala305Glu.

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

PMID 21228398 2011 Carrier testing for severe childhood recessive diseases by next-generation sequencing.

PMID 16437572 2006 Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene.

PMID 18978679 2008 Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease.

PMID 19685155 2009 Glyceryl triacetate for Canavan disease: a low-dose trial in infants and evaluation of a higher dose for toxicity in the tremor rat model.

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

PMID 10701101 2000 Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease.

PMID 22611636 2012 We report here a 9 months old girl with Canavan Disease and a homozygous c.79G>A mutation in the ASPA gene, detected for the first time in Turkish population.

PMID 22019069 2011 Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation.

PMID 22878930 2013 Two reported mutations c.162 C > A (p.Asn54Lys) and c.859 G > A (p.Ala287Thr) were identified in two different cases of Canavan disease.

rs12948217 in SPATA22;ASPA gene and Canavan Disease, Familial Form PMID 10909858 2000 Mutation detection in the aspartoacylase gene in 17 patients with Canavan disease: four new mutations in the non-Jewish population.

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

PMID 11238686 2001 A partial deletion of the aspartoacylase gene is the cause of Canavan disease in a family from Mexico.

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

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

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

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

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

PMID 18978679 2008 Genome-wide gene expression profiling and mutation analysis of Saudi patients with Canavan disease.

PMID 10701101 2000 Novel splice site mutation of aspartoacylase gene in a Turkish patient with Canavan disease.

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

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

PMID 22878930 2013 Molecular characterisation and prenatal diagnosis of Asparto-acylase deficiency (Canavan disease)--report of two novel and two known mutations from the Indian subcontinent.

PMID 22019069 2011 Chromosomal 17p13.3 microdeletion unmasking recessive Canavan disease mutation.