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The official name of this gene is “arylsulfatase E (chondrodysplasia punctata 1).”
ARSE is the gene's official symbol. The ARSE gene is also known by other names, listed below.
The ARSE gene provides instructions for making an enzyme called arylsulfatase E. This enzyme is part of a group known as sulfatases, which are enzymes that help process molecules that contain chemical groups known as sulfates. Sulfatases play important roles in cartilage and bone development.
Within cells, arylsulfatase E is located in the Golgi apparatus, a structure that modifies newly produced enzymes and other proteins. The function of this enzyme is unknown, although researchers believe it participates in a chemical pathway involving vitamin K. Evidence suggests that vitamin K normally plays a role in bone growth and maintenance of bone density.
Genetic changes involving the ARSE gene are responsible for X-linked chondrodysplasia punctata 1, a disorder of bone and cartilage development that occurs almost exclusively in males. Between 60 and 75 percent of males with the characteristic features of this condition have a mutation within the ARSE gene. At least 18 mutations have been found in affected individuals; these genetic changes reduce or eliminate the function of arylsulfatase E. Another 25 percent of affected males have a small deletion of genetic material from the region of the X chromosome that contains the ARSE gene. These individuals are missing the entire gene, so their cells produce no functional arylsulfatase E.
It is unclear how a shortage of arylsulfatase E disrupts the development of bones and cartilage and leads to the characteristic features of X-linked chondrodysplasia punctata 1.
Cytogenetic Location: Xp22.3
Molecular Location on the X chromosome: base pairs 2,934,631 to 2,968,309
The ARSE gene is located on the short (p) arm of the X chromosome at position 22.3.
More precisely, the ARSE gene is located from base pair 2,934,631 to base pair 2,968,309 on the X chromosome.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about ARSE helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
bone density ; cartilage ; chromosome ; deletion ; enzyme ; gene ; Golgi apparatus ; mutation
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.