ADAMTS-like protein 2 (ADAMTSL2)

ADAMTS-like protein 2 (ADAMTSL2) is a secreted glycoprotein belonging to the ADAMTS (A Disintegrin And Metalloproteinase with Thrombospondin Motifs) superfamily, more specifically the ADAMTS-like subfamily[1][2][3]. Unlike typical ADAMTS proteases, ADAMTSL2 lacks a protease domain and therefore does not have catalytic activity[1][2]. Its structure includes several thrombospondin type 1 repeats (TSR), a cysteine-rich domain, a spacer module, and a PLAC domain[1]. The protein is expressed in multiple tissues, including heart, skin, lung, and developing skeletal muscle[1]. ADAMTSL2 interacts with latent transforming growth factor beta binding protein 1 (LTBP-1) within the extracellular matrix, suggesting a role in regulation of TGF-β bioavailability and extracellular matrix homeostasis[1][2][3]. Mutations in the ADAMTSL2 gene cause geleophysic dysplasia, a rare autosomal recessive connective tissue disorder characterized by short stature, thick skin, brachydactyly, cardiac valvular abnormalities, and in some cases early death[1][2]. These mutations typically lead to misfolding and reduced secretion of ADAMTSL2, altering the regulation of signaling pathways such as TGF-β and extracellular matrix composition[1][2][3]. There is no current evidence that ADAMTSL2 is a direct therapeutic target of drugs, nor are there characterized small-molecule inhibitors, activating agents, or biomarker uses in standard clinical practice relating to ADAMTSL2. ADAMTSL2 is primarily a protein of research and diagnostic interest, especially in the context of rare genetic disorders, rather than a conventional pharmacological target such as a receptor, enzyme, channel, or transporter[1][2][3].

Other names

ADAMTSL2KIAA0605ADAMTSL-2GPHYSD1