靶标:
ARSL
产品别名:
ARSE; ASE; CDPX; CDPX1; CDPXR; ARSL; arylsulfatase L; arylsulfatase L; arylsulfatase L; arylsulfatase E (chondrodysplasia punctata 1);
背景信息:
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],