Gene:
arylsulfatase E (chondrodysplasia punctata 1)
Description:
Arylsulfatase E is a member of the sulfatase family. ARSE 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 (CDPX), a disease characterized by abnormalities in cartilage and bone development, has been linked to mutations in this gene.