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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. Alternative splicing results in multiple transcript variants. A pseudogene related to this gene is located on the Y chromosome.
Gene Name: | arylsulfatase E (chondrodysplasia punctata 1) |
Synonyms: | ARSE, Arylsulfatase E, ASE, CDPX, CDPXR, CDPX1, Chondrodysplasia punctata 1 |
Target Sequences: | NM_000047 NP_000038.2 P51690 |
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