Arylsulfatase E (ARSE)
ASE; CDPX; CDPX1; Chondrodysplasia Punctata 1
Arylsulfatase E is a member of the sulfatase family. It is glycosylated postranslationally and localized to the golgi apparatus. Sulfatases are essential for the correct composition of bone and cartilage matrix. X-linked chondrodysplasia punctata, a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene.
It is likely that warfarin embryopathy involves drug-induced inhibition of the same enzyme. Another member of the arylsulfatase family, steroid sulfatase (STS), is deficient in X-linked ichthyosis. ARSA is deficient in metachromatic leukodystrophy; ARSB is deficient in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome).
Organism species: Homo sapiens (Human)
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Organism species: Rattus norvegicus (Rat)
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