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Reviewed November 2011
What is the official name of the ARSE gene?
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.
Read more about gene names and symbols on the About page.
What is the normal function of the ARSE gene?
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.
How are changes in the ARSE gene related to health conditions?
Where is the ARSE gene located?
Cytogenetic Location: Xp22.3
Molecular Location on the X chromosome: base pairs 2,934,632 to 2,968,310
(Homo sapiens Annotation Release 107, GRCh38.p2) (
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 2,934,632 to base pair 2,968,310 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about ARSE?
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.
What other names do people use for the ARSE gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding ARSE?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (7 links)
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? in the Handbook.