EC Number |
General Information |
Reference |
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3.1.6.8 | malfunction |
inherited deficiency of arylsulfatase A leads to metachromatic leukodystrophy, MLD, a disease involving demyelination in the central and peripheral nervous systems, with an estimated frequency of 1 in 40000 newborns. Inherited deficiency for arylsulfatase leads to lysosomal storage of sulfated compounds and to serious diseases such as growth retardation, heart failure, and demyelination in the central nervous system |
714779 |
3.1.6.8 | malfunction |
metachromatic leukodystrophy, MLD, is a lysosomal storage disease caused by a deficiency of the lysosomal enzyme arylsulfatase A |
708615 |
3.1.6.8 | malfunction |
metachromatic leukodystrophy, MLD, is a rare inherited lysosomal storage disorder caused by the deficiency of arylsulfatase A, ARSA |
708662 |
3.1.6.8 | metabolism |
ArsA is involved in the modulation of a sort of signaling cascade, which affects the morphology of the cells, by binding to the HSPGs located on the cell surface |
714779 |
3.1.6.8 | metabolism |
arylsulfatase A catalyzes the first step in the intralysosomal degradation of the sphingolipid 3-O-sulfogalactosylceramide, briefly called sulfatide |
708615 |
3.1.6.8 | more |
heteromerization of wild-type and misfolded endoplasmic reticulum-degraded arylsulfatase A polypeptides affects the quality control of wild-type arylsulfatase A subunits. Within a heteromer, the misfolded subunit exerts a dominant negative effect on the wild-type subunit. Mechanism, overview |
714958 |
3.1.6.8 | physiological function |
ARSA is involved in the catabolism of membrane sulfatides into galactosylceramide |
708662 |
3.1.6.8 | physiological function |
ArsA plays a role in the components of the extracellular matrix. ArsA functions as a substrate on which cells adhere and form protrusions. Coating culture plates with recombinant mouse ArsA, rmArsA, stimulates adhesion of human microvascular endothelial cells to the plate followed by the formation of cell protrusions as well as lamellipodia. rmArsA affects the architecture of the cytoskeleton, with a high density of actin filaments localized to peripheral regions of the cells and the extension of bundles of microtubules into the tips of cellular protrusions. rmArsA also affects the distribution pattern of the cell adhesion-associated proteins, integrin alpha2beta1, and paxillin. rmArsA seems to modulate signaling of basic fibroblast growth factor stimulating cytoskeletal rearrangement |
714779 |