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ADAMTSL1 encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family.
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These data imply a multisystem role for ADAMTSL1 and present the first disease-associated variant affecting a C-mannosylation motif.
Punctin, a novel ADAMTS (zeige ADAMTS13 Antikörper)-like molecule, ADAMTSL-1, in extracellular matrix
data define a critical role for N-glycosylation and O-fucosylation in the biosynthesis of punctin-1
thrombospondin type-1 repeats from punctin-1 carries C-mannosylation in close proximity to O-linked fucose
This gene encodes a secreted protein and member of the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motif) family. This protein lacks the metalloproteinase and disintegrin-like domains, which are typical of the ADAMTS family, but contains other ADAMTS domains, including the thrombospondin type 1 motif. This protein may have important functions in the extracellular matrix. Alternative splicing results in multiple transcript variants encoding distinct proteins.
, ADAM-TS related protein 1
, ADAMTS-like protein 1