Table 2

 Metalloproteases and their genetic disorders

GeneProteinDisorderTransFunctionMIM
Trans, mode of transmission; VWF, von Willebrand’s disease; ECM, extracellular matrix;
ADAMTS2 Procollagen N proteinaseEhlers-Danlos syndromeARCollagen maturation225410
ADAMTS13 von Willebrand factor cleaving proteaseTTPARVWF cleavage274150
MMP2 Matrix metalloprotease type 2OsteolysisARECM remodelling605156
ECE-1 Endothelin converting enzymeHirschprung’s diseaseARNeural cell crest development142623
PEK PHEXHypo-phosphataemiaX linkedClearance of phosphatonin307800
ZMPSTE24 X FACE1Mandibuloacral dysplasiaARPrelamin A maturation248370
SPG7 ParapleginSpastic paraplegiaARQuality control of mitochondrial proteins607259