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ARSB

ARSB

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.

Read more about gene names and symbols on the About page.

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 78,777,208 to 78,986,533

The ARSB gene is located on the long (q) arm of chromosome 5 at position 14.1.

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 78,777,208 to base pair 78,986,533 on chromosome 5.

See How do geneticists indicate the location of a gene? 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.

What other names do people use for the ARSB gene or gene products?

  • ARSB_HUMAN
  • arylsulfatase B isoform 1 precursor
  • ASB
  • chondroitinase
  • chondroitinsulfatase
  • G4S
  • MPS6
  • N-acetylgalactosamine-4-sulfatase
  • N-acetylgalactosamine 4-sulfate sulfohydrolase

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 ARSB?

breakdown ; cell ; DNA ; enzyme ; gene ; inflammation ; mutation ; precursor ; sulfate

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (8 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.

 
Reviewed: June 2010
Published: February 23, 2015