Reviewed June 2010
What is the official name of the ARSB gene?
The official name of this gene is “arylsulfatase B.”
ARSB is the gene's official symbol. The ARSB gene is also known by other names, listed below.
What is the normal function of the ARSB gene?
The ARSB gene provides instructions for producing an enzyme called arylsulfatase B, which is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). Specifically, arylsulfatase B removes a chemical group known as a sulfate from two GAGs called dermatan sulfate and chondroitin sulfate. Arylsulfatase B is located in lysosomes, compartments within cells that digest and recycle different types of molecules.
How are changes in the ARSB gene related to health conditions?
- mucopolysaccharidosis type VI - caused by mutations in the ARSB gene
More than 130 mutations in the ARSB gene have been found to cause mucopolysaccharidosis type VI (MPS VI). Most of these mutations change single DNA building blocks (nucleotides) in the gene. All of the mutations that cause MPS VI reduce or eliminate the function of arylsulfatase B. It usually cannot be determined whether a certain mutation will cause severe or mild MPS VI; however, mutations known to result in the complete absence of arylsulfatase B activity cause severe signs and symptoms.
The lack of arylsulfatase B activity leads to the accumulation of GAGs within lysosomes. Conditions such as MPS VI that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. The accumulation of GAGs within lysosomes increases the size of cells, which is why many tissues and organs are enlarged in this disorder. Researchers believe that the buildup of GAGs may also interfere with the functions of other proteins inside lysosomes, triggering inflammation and cell death.
Where is the ARSB gene located?
Cytogenetic Location: 5q14.1
Molecular Location on chromosome 5: base pairs 78,777,209 to 78,986,534
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/411))
The ARSB gene is located on the long (q) arm of chromosome 5 at position 14.1.
More precisely, the ARSB gene is located from base pair 78,777,209 to base pair 78,986,534 on chromosome 5.
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 ARSB?
You and your healthcare professional may find the following resources about ARSB 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%28ARSB%5BTIAB%5D%29%20OR%20%28arylsulfatase%20B%5BTIAB%5D%29%29%20OR%20%28N-acetylgalactosamine-4-sulfatase%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/611542)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_ARSB.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=714)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/411)
What other names do people use for the ARSB gene or gene products?
- arylsulfatase B isoform 1 precursor
- N-acetylgalactosamine 4-sulfate sulfohydrolase
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 ARSB?
You may find definitions for these and many other terms in the Genetics Home Reference
- OMIM: ARYLSULFATASE B (http://omim.org/entry/611542)
- Clarke LA. The mucopolysaccharidoses: a success of molecular medicine. Expert Rev Mol Med. 2008 Jan 18;10:e1. doi: 10.1017/S1462399408000550. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18201392?dopt=Abstract)
- Garrido E, Chabás A, Coll MJ, Blanco M, Domínguez C, Grinberg D, Vilageliu L, Cormand B. Identification of the molecular defects in Spanish and Argentinian mucopolysaccharidosis VI (Maroteaux-Lamy syndrome) patients, including 9 novel mutations. Mol Genet Metab. 2007 Sep-Oct;92(1-2):122-30. Epub 2007 Jul 20. (http://www.ncbi.nlm.nih.gov/pubmed/17643332?dopt=Abstract)
- Garrido E, Cormand B, Hopwood JJ, Chabás A, Grinberg D, Vilageliu L. Maroteaux-Lamy syndrome: functional characterization of pathogenic mutations and polymorphisms in the arylsulfatase B gene. Mol Genet Metab. 2008 Jul;94(3):305-12. doi: 10.1016/j.ymgme.2008.02.012. Epub 2008 Apr 10. (http://www.ncbi.nlm.nih.gov/pubmed/18406185?dopt=Abstract)
- Karageorgos L, Brooks DA, Pollard A, Melville EL, Hein LK, Clements PR, Ketteridge D, Swiedler SJ, Beck M, Giugliani R, Harmatz P, Wraith JE, Guffon N, Leão Teles E, Sá Miranda MC, Hopwood JJ. Mutational analysis of 105 mucopolysaccharidosis type VI patients. Hum Mutat. 2007 Sep;28(9):897-903. (http://www.ncbi.nlm.nih.gov/pubmed/17458871?dopt=Abstract)
- Litjens T, Hopwood JJ. Mucopolysaccharidosis type VI: Structural and clinical implications of mutations in N-acetylgalactosamine-4-sulfatase. Hum Mutat. 2001 Oct;18(4):282-95. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11668612?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/411)
- Tessitore A, Pirozzi M, Auricchio A. Abnormal autophagy, ubiquitination, inflammation and apoptosis are dependent upon lysosomal storage and are useful biomarkers of mucopolysaccharidosis VI. Pathogenetics. 2009 Jun 16;2(1):4. doi: 10.1186/1755-8417-2-4. (http://www.ncbi.nlm.nih.gov/pubmed/19531206?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.