EC 3.1.6.8
As a member of the sulfatase family, ARSA is required for the lysosomal degradation of cerebroside-3-sulfate, a sphingolipid sulfate ester and a major constituent of the myelin sheet. The ARSA deficiency results in metachromatic leukodystrophy (MLD), a lysosomal storage disease in the central and peripheral nervous systems with severe and progressive neurological symptoms. The deduced amino acid sequence of human ARSA consists of a signal peptide (residues 1-18) and a mature chain (residues 19-507).
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