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Normal Function
The ADAMTSL2 gene provides instructions for making a protein whose function is unknown. The ADAMTSL2 protein is active in many different tissues. It is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells.
Studies suggest that the ADAMTSL2 protein interacts with a protein called latent transforming growth factor beta binding protein 1 (LTBP1). The LTBP1 protein is involved in the storage of transforming growth factor beta (TGF-β), a critical growth factor that helps control the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement (motility), and the self-destruction of cells (apoptosis). Through its interaction with the LTBP1 protein, researchers suspect that the ADAMTSL2 protein may help regulate the availability of TGF-β.
The interaction between the ADAMTSL2 protein and the LTBP1 protein suggests that ADAMTSL2 may also play a role in the microfibrillar network. This organized clustering of thread-like filaments (called microfibrils) in the extracellular matrix provides strength and flexibility to tissues throughout the body.
Health Conditions Related to Genetic Changes
Geleophysic dysplasia
At least five mutations in the ADAMTSL2 gene have been identified in people with geleophysic dysplasia. Most of these mutations change single protein building blocks (amino acids) in the ADAMTSL2 protein, which probably alters the protein's 3-dimensional shape.
Through a process that is poorly understood, ADAMTSL2 gene mutations alter the microfibrillar network in many different tissues. Impairment of this essential network disrupts the normal functions of cells, which likely contributes to the varied signs and symptoms of geleophysic dysplasia. Researchers are working to determine how mutations in the ADAMTSL2 gene lead to short stature, heart disease, and the other features of this condition.
More About This Health ConditionOther Names for This Gene
- ADAMTS-like 2
- ADAMTS-like 2 precursor
- ATL2_HUMAN
- FLJ45164
- KIAA0605
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Koo BH, Le Goff C, Jungers KA, Vasanji A, O'Flaherty J, Weyman CM, Apte SS. ADAMTS-like 2 (ADAMTSL2) is a secreted glycoprotein that is widely expressed during mouse embryogenesis and is regulated during skeletal myogenesis. Matrix Biol. 2007 Jul;26(6):431-41. doi: 10.1016/j.matbio.2007.03.003. Epub 2007 Mar 30. Citation on PubMed
- Le Goff C, Morice-Picard F, Dagoneau N, Wang LW, Perrot C, Crow YJ, Bauer F, Flori E, Prost-Squarcioni C, Krakow D, Ge G, Greenspan DS, Bonnet D, Le Merrer M, Munnich A, Apte SS, Cormier-Daire V. ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet. 2008 Sep;40(9):1119-23. doi: 10.1038/ng.199. Citation on PubMed or Free article on PubMed Central
- Marzin P, Cormier-Daire V. Geleophysic Dysplasia. 2009 Sep 22 [updated 2024 Mar 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from http://www.ncbi.nlm.nih.gov/books/NBK11168/ Citation on PubMed
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