Arylsulfatase A

Arylsulfatase A is the enzyme in animals that cleaves the sulfate of sulfatide. The degradation of these substances takes place in the lysosomes of cells. Is in humans, the enzyme activity is not present or too low, which can be caused by mutations in the ARSA gene, it comes through the accumulation of sulfatides in the lysosomes to a metabolic disorder, metachromatic leukodystrophy of.

A specific mutation in the ARSA gene does not affect the enzyme activity is found in six to ten percent of all Europeans and is called Pseudoarylsulfatase A deficiency. Heterozygous with this allele and a metachromatic leukodystrophy Mangelallel also show.

Arylsulfatase A is a dimer of the entire 489 amino acid long chain, or a dimer of the complex of the two fragments are 426 and 60 amino acids long. The formylation of the cysteine ​​69 to Ketoalanin ( post-translational modification ), is critical to the capture of the calcium - cofactor and enzyme activity. A defect in this process affects multiple sulfatase and leads to multiple sulfatase.

Human Genome Organisation Zygosity#Heterozygous Formylation reaction Digital Object Identifier
81894
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