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.
Other Names
KIAA0605
Related Genetics Topics
Identifiers
- NCBI Gene: 9719
- OMIM: 612277
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
