ADAMTS like 2
Última actualización 25 Feb 2026
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The ADAMTSL2 gene provides instructions for making a protein whose exact function is unknown. The ADAMTSL2 protein is active in many different tissues and is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells.
Normal function
The ADAMTSL2 gene provides instructions for making a protein whose exact function is unknown. The ADAMTSL2 protein is active in many different tissues and 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 another protein called transforming growth factor beta (TGF-β). TGF-β helps regulate important cell processes, including the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement, and the self-destruction of cells (apoptosis).
The interaction between the ADAMTSL2 and LTBP1 proteins suggests that ADAMTSL2 may play a role in the microfibrillar network. This organized arrangement of thread-like filaments (microfibrils) within the extracellular matrix provides strength and flexibility to tissues throughout the body.
Researchers also suspect that the ADAMTSL2 protein may help regulate the availability of TGF-β, which is stored in the microfibrillar network. Once released from the microfibrillar network, TGF-β activates important signaling pathways, including the signaling pathways involved in bone formation.
Conditions referring to this gene or chromosome
Otros nombres
KIAA0605
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Lecturas adicionales y referencias
- ADAMTS like 2; MedlinePlus, National Library of Medicine.
- Camarena V, Williams MM, Morales AA, Zafeer MF, Kilic OV, Kamiar A, Abad C, Rasmussen MA, Briski LM, Peart L, Bademci G, Barbouth DS, Smithson S, Wang G, Shehadeh LA, Walz K, Tekin M. ADAMTSL2 mutations determine the phenotypic severity in geleophysic dysplasia. JCI Insight. 2024 Feb 1;9(5):e174417. doi: 10.1172/jci.insight.174417.
- 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.
- Marzin P, Cormier-Daire V. Geleophysic Dysplasia. 2009 Sep 22 [updated 2024 Mar 28]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK11168/
- Piccolo P, Sabatino V, Mithbaokar P, Polishchuck E, Law SK, Magraner-Pardo L, Pons T, Polishchuck R, Brunetti-Pierri N. Geleophysic dysplasia: novel missense variants and insights into ADAMTSL2 intracellular trafficking. Mol Genet Metab Rep. 2019 Sep 5;21:100504. doi: 10.1016/j.ymgmr.2019.100504. eCollection 2019 Dec.
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