ADAMTS12 |
ADAMTS14 |
Deficient anterior pituitary with variable immune deficiency syndrome |
||
[a disintegrin and metalloproteinase with thrombospondin motif-13; ADAM metallopeptidase with thrombospondin type 1 motif 13] (approved gene symbol). This protein is a member of the ADAMTS protein family (Zheng et al, 2001). A previous and discarded gene symbol is C9orf8 [chromosome 9 open reading frame 8]. ADAMTS13 is identical with VWFCP [von Willebrand factor-cleaving protease], which degrades the large multimers of von Willebrand factor by cleaving monomeric subunits (Fujikawa et al, 2001). Lack of the enzyme due to mutations is associated with the development of thrombotic thrombocytopenic purpura.
The ADAMTS13 cDNA cloned by Levy et al (2001) encodes a
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