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CHST3

CHST3

Reviewed October 2012

What is the official name of the CHST3 gene?

The official name of this gene is “carbohydrate (chondroitin 6) sulfotransferase 3.”

CHST3 is the gene's official symbol. The CHST3 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 CHST3 gene?

The CHST3 gene provides instructions for making an enzyme called chondroitin 6-O-sulfotransferase 1 or C6ST-1. This enzyme has an important role in the development and maintenance of the skeleton. In particular, it is essential for the normal development of cartilage, which is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears.

The C6ST-1 enzyme modifies molecules called chondroitin sulfate proteoglycans, which are abundant in cartilage and give this tissue its rubbery, gel-like consistency. The C6ST-1 enzyme carries out a process known as sulfation, in which a chemical group called a sulfate is transferred from one chemical compound to another. Specifically, the enzyme takes sulfate from a molecule called 3'-phosphoadenyl-5'-phosphosulfate (PAPS) and adds it to a specific location on chondroitin sulfate proteoglycans. Sulfation of these molecules is a critical step in cartilage formation.

Does the CHST3 gene share characteristics with other genes?

The CHST3 gene belongs to a family of genes called sulfotransferases, membrane-bound (sulfotransferases, membrane-bound).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the CHST3 gene related to health conditions?

CHST3-related skeletal dysplasia - caused by mutations in the CHST3 gene

At least 24 mutations in the CHST3 gene have been found to cause CHST3-related skeletal dysplasia, a condition characterized by progressive bone and joint abnormalities. Most of the mutations change single protein building blocks (amino acids) in the C6ST-1 enzyme. Other mutations result in the production of an abnormally short version of the enzyme. Each of these genetic changes reduces or eliminates the activity of C6ST-1, preventing it from transferring sulfate groups to chondroitin sulfate proteoglycans. Defective sulfation of these molecules disrupts the normal development of cartilage and bone, resulting in short stature, joint dislocations, and the other features of CHST3-related skeletal dysplasia.

Where is the CHST3 gene located?

Cytogenetic Location: 10q22.1

Molecular Location on chromosome 10: base pairs 71,964,361 to 72,013,563

The CHST3 gene is located on the long (q) arm of chromosome 10 at position 22.1.

The CHST3 gene is located on the long (q) arm of chromosome 10 at position 22.1.

More precisely, the CHST3 gene is located from base pair 71,964,361 to base pair 72,013,563 on chromosome 10.

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

Where can I find additional information about CHST3?

You and your healthcare professional may find the following resources about CHST3 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 CHST3 gene or gene products?

  • C6ST
  • C6ST1
  • C6ST-1
  • carbohydrate sulfotransferase 3
  • chondroitin 6-O-sulfotransferase 1
  • CHST3_HUMAN
  • galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0
  • GST-0
  • HSD

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 CHST3?

acids ; carbohydrate ; cartilage ; compound ; dysplasia ; enzyme ; galactose ; gene ; joint ; molecule ; protein ; short stature ; stature ; sulfate ; tissue

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.

 
Reviewed: October 2012
Published: October 20, 2014