Gene Symbol | ARSE |
Entrez Gene ID | 415 |
Full Name | arylsulfatase E (chondrodysplasia punctata 1) |
Synonyms | ASE,CDPX,CDPX1,CDPXR |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Chondrodysplasia punctata, X-linked recessive, 302950 (3) |