Aliases for ARSE Gene
External Ids for ARSE Gene
Previous HGNC Symbols for ARSE Gene
Previous GeneCards Identifiers 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, X-Linked Recessive and Chondrodysplasia Punctata 1, X-Linked. Among its related pathways are Gamma carboxylation, hypusine formation and arylsulfatase activation and Metabolism. GO annotations related to this gene include sulfuric ester hydrolase activity and arylsulfatase activity. An important paralog of this gene is ARSD.
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.