{"symbol":"ARSE","synonyms":["CDPX1","CDPXR","ASE","CDPX"],"name":"arylsulfatase E (chondrodysplasia punctata 1)","description":"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. [provided by RefSeq, Sep 2013]","ncbiEntrezGeneId":415,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/415","proteins":[{"symbol":"ARSE_HUMAN","href":"/api/1.0/protein/ARSE_HUMAN"}],"hgncRootFamilies":[{"name":"Sulfatases (ARS)","href":"/api/1.0/gene_family/Sulfatases+%28ARS%29"}]}