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Literature summary for 3.1.6.1 extracted from

  • Dorboz, I.; Eymard-Pierre, E.; Kefi, R.; Abdelhak, S.; Miladi, N.; Boespflug-Tanguy, O.; Boespflug-Tanguy, O.
    Identification of a new arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD) (2009), J. Neurol. Sci., 287, 278-280.
    View publication on PubMed

Cloned(Commentary)

Cloned (Comment) Organism
ARSA, DNA and amino acid sequence determination and analysis of wild-type and mutant Homo sapiens

Protein Variants

Protein Variants Comment Organism
W124G naturally occurring missense mutation causing ARSA deficiency, isolated from two Tunisian patients with late infantile metachromatic leukodystrophy, MLD Homo sapiens

Localization

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

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Synonyms

Synonyms Comment Organism
ARSA
-
Homo sapiens
arylsulfatase A
-
Homo sapiens

General Information

General Information Comment Organism
malfunction metachromatic leukodystrophy, MLD, is an autosomal recessive, lysosomal storage disease caused by a deficiency of the enzyme arylsulfatase A, ARSA Homo sapiens