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.
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?
- X-linked chondrodysplasia punctata 1 - caused by mutations in the ARSE gene
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.
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) (NCBI (http://www.ncbi.nlm.nih.gov/gene/415))
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) 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.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28%28ARSE%5BTIAB%5D%29%20OR%20%28arylsulfatase%20E%5BTIAB%5D%29%29%20OR%20%28CDPX1%5BTIAB%5D%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%203600%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/300180)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_ARSE.html)
- HGNC Gene Family: Sulfatases (http://www.genenames.org/cgi-bin/genefamilies/set/410)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=719)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/415)
What other names do people use for the ARSE gene or gene products?
- arylsulfatase E
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding ARSE?
bone density ;
Golgi apparatus ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Brunetti-Pierri N, Andreucci MV, Tuzzi R, Vega GR, Gray G, McKeown C, Ballabio A, Andria G, Meroni G, Parenti G. X-linked recessive chondrodysplasia punctata: spectrum of arylsulfatase E gene mutations and expanded clinical variability. Am J Med Genet A. 2003 Mar 1;117A(2):164-8. (http://www.ncbi.nlm.nih.gov/pubmed/12567415?dopt=Abstract)
- Daniele A, Parenti G, d'Addio M, Andria G, Ballabio A, Meroni G. Biochemical characterization of arylsulfatase E and functional analysis of mutations found in patients with X-linked chondrodysplasia punctata. Am J Hum Genet. 1998 Mar;62(3):562-72. (http://www.ncbi.nlm.nih.gov/pubmed/9497243?dopt=Abstract)
- Gene Review: Chondrodysplasia Punctata 1, X-Linked (http://www.ncbi.nlm.nih.gov/books/NBK1544)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/415)
- Nino M, Matos-Miranda C, Maeda M, Chen L, Allanson J, Armour C, Greene C, Kamaluddeen M, Rita D, Medne L, Zackai E, Mansour S, Superti-Furga A, Lewanda A, Bober M, Rosenbaum K, Braverman N. Clinical and molecular analysis of arylsulfatase E in patients with brachytelephalangic chondrodysplasia punctata. Am J Med Genet A. 2008 Apr 15;146A(8):997-1008. doi: 10.1002/ajmg.a.32159. (http://www.ncbi.nlm.nih.gov/pubmed/18348268?dopt=Abstract)
- Parenti G, Buttitta P, Meroni G, Franco B, Bernard L, Rizzolo MG, Brunetti-Pierri N, Ballabio A, Andria G. X-linked recessive chondrodysplasia punctata due to a new point mutation of the ARSE gene. Am J Med Genet. 1997 Dec 12;73(2):139-43. (http://www.ncbi.nlm.nih.gov/pubmed/9409863?dopt=Abstract)
- Sheffield LJ, Osborn AH, Hutchison WM, Sillence DO, Forrest SM, White SJ, Dahl HH. Segregation of mutations in arylsulphatase E and correlation with the clinical presentation of chondrodysplasia punctata. J Med Genet. 1998 Dec;35(12):1004-8. (http://www.ncbi.nlm.nih.gov/pubmed/9863597?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.