Aliases for ARSE Gene
External Ids for ARSE Gene
Previous Symbols for ARSE Gene
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]
GeneCards Summary for ARSE Gene
ARSE (Arylsulfatase E (Chondrodysplasia Punctata 1)) is a Protein Coding gene. Diseases associated with ARSE include chondrodysplasia punctata 1, x-linked and x-linked chondrodysplasia punctata. Among its related pathways are PTM- gamma carboxylation, hypusine formation and arylsulfatase activation and PTM- gamma carboxylation, hypusine formation and arylsulfatase activation. GO annotations related to this gene include arylsulfatase activity. An important paralog of this gene is ARSJ.
UniProtKB/Swiss-Prot for ARSE Gene
May be essential for the correct composition of cartilage and bone matrix during development. Has no activity toward steroid sulfates