ID1005 | ENZYMEN-acetylglucosamine-6-sulphatase | GENEGALNS | EC NUMBER3.1.6.4 | FAMILYArylsulphatase | CYTOGENETICS16q24.3 | DISEASEMPS IVA/Morquio A disease | REFERENCE25545067,8434612 , 22940367, 25137622 | ORGANEar,Head , Face,Teeth |
ID1025 | ENZYMECathepsin C | GENECTSC | EC NUMBER3.4.14.1 | FAMILYpeptidase C1 | CYTOGENETICS11q14.1q14.3 | DISEASEPapillon-Lefevre syndrome (PLS) | REFERENCE9092576 , 7649281 | ORGANTeeth ,Skin,Nervous System |
ID1029 | ENZYMECathepsin K | GENECTSK | EC NUMBER3.4.22.38 | FAMILYPapain cysteine protease (C1) | CYTOGENETICS1q21 | DISEASEPycnodysostosis (PKND) | REFERENCE1049121 , 125731710 | ORGANHead,Nose,Teeth,,Boness,Skin,Hair |
ID1030 | ENZYMECathepsin L1 | GENECTSL1 | EC NUMBER3.4.22.15 | FAMILYPapain cysteine protease (C1) | CYTOGENETICS9q21q22 | DISEASEeccrine acrospiroma,gingival overgrowth | REFERENCE9141479 , 8419312 , 8896443 | ORGANTeeth |
ID1046 | ENZYMEIduronate 2 sulphatase | GENEIDS | EC NUMBER3.1.6.13 | FAMILYSulfatase | CYTOGENETICSXq28 | DISEASEMPS type II (Hunter syndrome) | REFERENCE1303211, 8281149, 7981716 | ORGANKidney,Head,Nose,Boness,Skin,Teeth,,Liver,Lungs,Hair,Spleen,Nervous System |
ID1066 | ENZYMEFormylglycine-generating enzyme | GENESUMF1 | EC NUMBER1.8.3.7 | FAMILYsulfatase-modifying factor | CYTOGENETICS3p26.1 | DISEASEMultiple sulfatase deficiency (MSD) | REFERENCE12757706, 25931126, 15907468, 12757705, 12757706, 15146462, 18157819, 21224894 | ORGANEar,Eye,Heart,Liver,Spleen,Skin,Bone,Teeth,Nose |