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.
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) 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.
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about CHST3?
You and your healthcare professional may find the following resources about CHST3 helpful.
Educational resources - Information pages
- Developmental Biology (sixth edition, 2000): Osteogenesis: The Development of Bones (http://www.ncbi.nlm.nih.gov/books/NBK10056/)
- Essentials of Glycobiology (second edition, 2009): Proteoglycans and Sulfated Glycosaminoglycans (http://www.ncbi.nlm.nih.gov/books/NBK1900/)
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK62112)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for CHST3 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=9469%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog (http://omim.org/entry/603799)
Research Resources - Tools for researchers
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=9469)
- HGNC Gene Family: Sulfotransferases, membrane-bound (http://www.genenames.org/genefamilies/SULTM)
- HGNC Gene Symbol Report (http://www.genenames.org/data/hgnc_data.php?hgnc_id=1971)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/9469)
What other names do people use for the CHST3 gene or gene products?
- carbohydrate sulfotransferase 3
- chondroitin 6-O-sulfotransferase 1
- galactose/N-acetylglucosamine/N-acetylglucosamine 6-O-sulfotransferase 0
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 CHST3?
short stature ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Hermanns P, Unger S, Rossi A, Perez-Aytes A, Cortina H, Bonafé L, Boccone L, Setzu V, Dutoit M, Sangiorgi L, Pecora F, Reicherter K, Nishimura G, Spranger J, Zabel B, Superti-Furga A. Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. Am J Hum Genet. 2008 Jun;82(6):1368-74. doi: 10.1016/j.ajhg.2008.05.006. Erratum in: Am J Hum Genet. 2008 Aug;83(2):293. (http://www.ncbi.nlm.nih.gov/pubmed/18513679?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/9469)
- Thiele H, Sakano M, Kitagawa H, Sugahara K, Rajab A, Höhne W, Ritter H, Leschik G, Nürnberg P, Mundlos S. Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proc Natl Acad Sci U S A. 2004 Jul 6;101(27):10155-60. Epub 2004 Jun 23. (http://www.ncbi.nlm.nih.gov/pubmed/15215498?dopt=Abstract)
- Tsutsumi K, Shimakawa H, Kitagawa H, Sugahara K. Functional expression and genomic structure of human chondroitin 6-sulfotransferase. FEBS Lett. 1998 Dec 18;441(2):235-41. (http://www.ncbi.nlm.nih.gov/pubmed/9883891?dopt=Abstract)
- Tuysuz B, Mizumoto S, Sugahara K, Celebi A, Mundlos S, Turkmen S. Omani-type spondyloepiphyseal dysplasia with cardiac involvement caused by a missense mutation in CHST3. Clin Genet. 2009 Apr;75(4):375-83. doi: 10.1111/j.1399-0004.2009.01167.x. (http://www.ncbi.nlm.nih.gov/pubmed/19320654?dopt=Abstract)
- Unger S, Lausch E, Rossi A, Mégarbané A, Sillence D, Alcausin M, Aytes A, Mendoza-Londono R, Nampoothiri S, Afroze B, Hall B, Lo IF, Lam ST, Hoefele J, Rost I, Wakeling E, Mangold E, Godbole K, Vatanavicharn N, Franco LM, Chandler K, Hollander S, Velten T, Reicherter K, Spranger J, Robertson S, Bonafé L, Zabel B, Superti-Furga A. Phenotypic features of carbohydrate sulfotransferase 3 (CHST3) deficiency in 24 patients: congenital dislocations and vertebral changes as principal diagnostic features. Am J Med Genet A. 2010 Oct;152A(10):2543-9. doi: 10.1002/ajmg.a.33641. (http://www.ncbi.nlm.nih.gov/pubmed/20830804?dopt=Abstract)
- van Roij MH, Mizumoto S, Yamada S, Morgan T, Tan-Sindhunata MB, Meijers-Heijboer H, Verbeke JI, Markie D, Sugahara K, Robertson SP. Spondyloepiphyseal dysplasia, Omani type: further definition of the phenotype. Am J Med Genet A. 2008 Sep 15;146A(18):2376-84. doi: 10.1002/ajmg.a.32482. (http://www.ncbi.nlm.nih.gov/pubmed/18698629?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.