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Genetics Home Reference: your guide to understanding genetic conditions
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ADAMTS10

Reviewed October 2008

What is the official name of the ADAMTS10 gene?

The official name of this gene is “ADAM metallopeptidase with thrombospondin type 1 motif, 10.”

ADAMTS10 is the gene's official symbol. The ADAMTS10 gene is also known by other names, listed below.

What is the normal function of the ADAMTS10 gene?

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.

Does the ADAMTS10 gene share characteristics with other genes?

The ADAMTS10 gene belongs to a family of genes called ADAMTS (ADAMTS metallopeptidase with thrombospondin type 1 motif).

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 ADAMTS10 gene related to health conditions?

Weill-Marchesani syndrome - caused by mutations in the ADAMTS10 gene

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.

Where is the ADAMTS10 gene located?

Cytogenetic Location: 19p13.2

Molecular Location on chromosome 19: base pairs 8,580,239 to 8,610,752

The ADAMTS10 gene is located on the short (p) arm of chromosome 19 at position 13.2.

The ADAMTS10 gene is located on the short (p) arm of chromosome 19 at position 13.2.

More precisely, the ADAMTS10 gene is located from base pair 8,580,239 to base pair 8,610,752 on chromosome 19.

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 ADAMTS10?

You and your healthcare professional may find the following resources about ADAMTS10 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 ADAMTS10 gene or gene products?

  • ADAMTS-10
  • ADAM-TS10
  • a disintegrin and metalloproteinase with thrombospondin motifs 10
  • a disintegrin-like and metalloprotease domain with thrombospondin type I repeats 10
  • a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10
  • ATS10_HUMAN

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 ADAMTS10?

brachydactyly ; cell ; chondrocyte ; domain ; enzyme ; gene ; metalloprotease ; motif ; short stature ; stature ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

  • Dagoneau N, Benoist-Lasselin C, Huber C, Faivre L, Mégarbané 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. Epub 2004 Sep 13. (http://www.ncbi.nlm.nih.gov/pubmed/15368195?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/18567016?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/81794)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/15693998?dopt=Abstract)
  • 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. Epub 2004 Sep 7. (http://www.ncbi.nlm.nih.gov/pubmed/15355968?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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: October 2008
Published: October 20, 2014