Aspartoacylase is a hydrolaseenzyme which breaks down N-acetyl aspartate. A deficiency is associated with Canavan disease. Hugo is a masculine name. ... The Entrez logo The Entrez Global Query Cross-Database Search System allows access to databases at the National Center for Biotechnology Information (NCBI) website. ... The Mendelian Inheritance in Man project is a database that catalogues all the known diseases with a genetic component, and - when possible - links them to the relevant genes in the human genome. ... The National Center for Biotechnology Information (NCBI) is part of the US National Library of Medicine (NLM), which is a branch of the US National Institutes of Health. ... Swiss-Prot is a curated biological database of protein sequences created in 1986 by Amos Bairoch during his PhD and developed by the Swiss Institute of Bioinformatics and the European Bioinformatics Institute. ... The Enzyme Commission number (EC number) is a numerical classification scheme for enzymes, based on the chemical reactions they catalyze. ... In biology and evolutionary computation, a locus is the position of a gene (or other significant sequence) on a chromosome. ... Chromosome 17 is one of the 23 pairs of chromosomes in humans. ... Hugo is a masculine name. ... The Entrez logo The Entrez Global Query Cross-Database Search System allows access to databases at the National Center for Biotechnology Information (NCBI) website. ... The National Center for Biotechnology Information (NCBI) is part of the US National Library of Medicine (NLM), which is a branch of the US National Institutes of Health. ... Swiss-Prot is a curated biological database of protein sequences created in 1986 by Amos Bairoch during his PhD and developed by the Swiss Institute of Bioinformatics and the European Bioinformatics Institute. ... In biology and evolutionary computation, a locus is the position of a gene (or other significant sequence) on a chromosome. ... Chromosome 11 is one of the 23 pairs of chromosomes in humans. ... In biochemistry, a hydrolase is an enzyme that can break a chemical bond by hydrolysis. ... Ribbon diagram of the enzyme TIM, surrounded by the space-filling model of the protein. ... Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. ...
Aspartoacylase activity in control cultured human fibroblasts was 9.2 +/- 1.8 nmol/h per mg protein, compared with 1.1 +/- 0.2 in seven Canavan patients and 3.5 +/- 0.9 in four patients' parents.
Canavan disease, or spongy degeneration of the brain, is a severe leukodystrophy caused by the deficiency of aspartoacylase (ASPA).
Canavan disease is an autosomal recessive leukodystrophy caused by the deficiency of aspartoacylase (ASPA).
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