Health Topics
Official websites use .gov
A
.gov website belongs to an official government
organization in the United States.
Secure .gov websites use HTTPS
A
lock (
) or https:// means you’ve safely connected to
the .gov website. Share sensitive information only on official,
secure websites.
Normal Function
The ADAMTS3 gene provides instructions for making an enzyme that is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. The ADAMTS3 protein is part of a family of proteins that help process procollagen molecules. Procollagens are the precursors of collagens, which are complex molecules that add strength, support, and stretchiness (elasticity) to many body tissues.
Within the extracellular matrix, the ADAMTS3 enzyme works with another protein that is produced from the CCBE1 gene to help regulate the activity of a protein called vascular endothelial growth factor receptor 3 (VEGFR3). VEGFR3 plays a key role in the development and maintenance of the lymphatic system, which is a network of vessels that transport white blood cells (lymphocytes), nutrients, and proteins in a fluid called lymph.
Health Conditions Related to Genetic Changes
Hennekam syndrome
Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the ADAMTS3 gene cause Hennekam syndrome, an inherited disorder that is characterized by abnormalities of the lymphatic system. People with Hennekam syndrome often have dilated lymphatic vessels (lymphangiectasia) and an accumulation of lymph (lymphedema) in various tissues.
The pathogenic ADAMTS3 gene variants that cause Hennekam syndrome interfere with the production of functional ADAMTS3 proteins. As a result, the regulation of VEGFR3 activity is impaired, which disrupts the development of the lymphatic system. These changes likely lead to the lymphedema and the lymphangiectasia seen in people with Hennekam syndrome.
More About This Health ConditionOther Names for This Gene
- ADAMTS-4
- KIAA0366
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Brouillard P, Dupont L, Helaers R, Coulie R, Tiller GE, Peeden J, Colige A, Vikkula M. Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3. Hum Mol Genet. 2017 Nov 1;26(21):4095-4104. doi: 10.1093/hmg/ddx297. Citation on PubMed
- Scheuerle AE, Sweed NT, Timmons CF, Smith ED, Alcaraz WA, Shinde DN. An additional case of Hennekam lymphangiectasia-lymphedema syndrome caused by loss-of-function mutation in ADAMTS3. Am J Med Genet A. 2018 Dec;176(12):2858-2861. doi: 10.1002/ajmg.a.40633. Epub 2018 Nov 18. Citation on PubMed
The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.