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Normal Function
The ADAMTS10 gene provides instructions for making an enzyme that is found in many of the body's cells and tissues. This enzyme is part of a family of metalloproteases, which are zinc-containing enzymes that cut apart other proteins. Although the function of the ADAMTS10 enzyme is unknown, it is critical for growth before and after birth. Researchers believe that it may be involved in the development of structures including the skin, eyes, heart, and skeleton.
Health Conditions Related to Genetic Changes
Weill-Marchesani syndrome
At least five mutations in the ADAMTS10 gene have been identified in people with Weill-Marchesani syndrome. Each of these mutations prevents the cell from producing any functional ADAMTS10 enzyme. Researchers speculate that a loss of this enzyme disrupts skeletal development, leading to short stature and unusually short fingers and toes (brachydactyly). A shortage of the ADAMTS10 enzyme also interferes with the development and function of the lens of the eye, causing eye abnormalities and impaired vision. Additionally, a lack of this enzyme may disrupt the normal development of the heart, resulting in the heart defects occasionally seen in people with Weill-Marchesani syndrome.
More About This Health ConditionOther Names for This Gene
- a disintegrin and metalloproteinase with thrombospondin motifs 10
- a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10
- a disintegrin-like and metalloprotease domain with thrombospondin type I repeats 10
- ADAM metallopeptidase with thrombospondin type 1 motif, 10
- ADAM-TS10
- ADAMTS-10
- ATS10_HUMAN
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Dagoneau N, Benoist-Lasselin C, Huber C, Faivre L, Megarbane A, Alswaid A, Dollfus H, Alembik Y, Munnich A, Legeai-Mallet L, Cormier-Daire V. ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet. 2004 Nov;75(5):801-6. doi: 10.1086/425231. Epub 2004 Sep 13. Citation on PubMed or Free article on PubMed Central
- Kutz WE, Wang LW, Dagoneau N, Odrcic KJ, Cormier-Daire V, Traboulsi EI, Apte SS. Functional analysis of an ADAMTS10 signal peptide mutation in Weill-Marchesani syndrome demonstrates a long-range effect on secretion of the full-length enzyme. Hum Mutat. 2008 Dec;29(12):1425-34. doi: 10.1002/humu.20797. Citation on PubMed
- Nicholson AC, Malik SB, Logsdon JM Jr, Van Meir EG. Functional evolution of ADAMTS genes: evidence from analyses of phylogeny and gene organization. BMC Evol Biol. 2005 Feb 4;5:11. doi: 10.1186/1471-2148-5-11. Citation on PubMed or Free article on PubMed Central
- Somerville RP, Jungers KA, Apte SS. Discovery and characterization of a novel, widely expressed metalloprotease, ADAMTS10, and its proteolytic activation. J Biol Chem. 2004 Dec 3;279(49):51208-17. doi: 10.1074/jbc.M409036200. Epub 2004 Sep 7. Citation on PubMed
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