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Literature summary for 3.5.1.23 extracted from

  • Alves, M.; Trionnaire, E.; Ribeiro, I.; Carpentier, S.; Harzer, K.; Levade, T.; Ribeiro, M.
    Molecular basis of acid ceramidase deficiency in a neonatal form of Farber disease: identification of the first large deletion in ASAH1 gene (2013), Mol. Genet. Metab., 109, 276-281.
    View publication on PubMed
Search for more literature for 3.5.1.23

Cloned(Commentary)

Cloned (Comment) Organism
gene ASAH1, DNA and amino acid sequence determination and analysis, genotyping, semi-quantitative enzyme expression analysis Homo sapiens

Localization

Localization Comment Organism GeneOntology No. Textmining
lysosome
-
 Homo sapiens 5764
-
soluble
-
 Homo sapiens
-
-

Molecular Weight [Da]

Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
14000
-
 1 * 14000 + 1 * 40000, SDS-PAGE Homo sapiens
40000
-
 1 * 14000 + 1 * 40000, SDS-PAGE Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens Q13510
-
-

Posttranslational Modification

Posttranslational Modification Comment Organism
glycoprotein N-glycosylated Homo sapiens

Source Tissue

Source Tissue Comment Organism Textmining
fibroblast
-
 Homo sapiens
-

Subunits

Subunits Comment Organism
heterodimer 1 * 14000 + 1 * 40000, SDS-PAGE Homo sapiens
monomer 1 * 50000-55000, enzyme precursor , SDS-PAGE Homo sapiens

Synonyms

Synonyms Comment Organism
acid ceramidase
-
 Homo sapiens

General Information

General Information Comment Organism
malfunction Farber disease, also known as Farber's lipogranulomatosis, is a clinically heterogeneous autosomal recessive disease caused by mutations in the ASAH1 gene, genotype-phenotype correlation, overview Homo sapiens
physiological function the enzyme catalyzes the lysosomal degradation of ceramide to sphingosine and fatty acid Homo sapiens