| Protease | Gene | Locus | Disease | OMIM | Inher. | Function | Animal Model |
|---|---|---|---|---|---|---|---|
| angiotensin converting enzyme | ACE | 17q23 | Renal tubular dysgenesis | 106180 | R | Loss | KO resembles disease |
| aminoacylase 1 | ACY1 | 3p21 | Aminoacylase 1 deficiency | 104620 | R | Loss | - |
| ADAM9 | ADAM9 | 8p11 | Cone-rod dystrophy | 612775 | - | Loss | KO resembles disease |
| ADAM10 | ADAM10 | 15q21 | Late-onset Alzheimer's disease | 602192 | Incomplete | Gain/Loss | - |
| ADAM17 | ADAM17 | 2p25 | Inflammatory Skin and Bowel Disease | 603639 | R | Loss | KO partially resembles disease |
| ADAMTS-10 | ADAMTS10 | 19p13 | Weill-Marchesani syndrome | 277600 | R | Loss | - |
| ADAMTS-13 | ADAMTS13 | 9q34 | Thrombotic thombocytopenic purpura | 274150 | R | Loss | - |
| ADAMTS-17 | ADAMTS17 | 15q26 | Weill-Marchesani syndrome | 277600 | R | Loss | - |
| ADAMTS-18 | ADAMTS18 | 16q23 | Knobloch syndrome | 267750 | R | (Loss) | - |
| procollagen I N-endopeptidase | ADAMTS2 | 5q23 | Ehlers-Danlos syndrome type VIIC | 225410 | R | Loss | KO resembles disease |
| Afg3-like protein 2 | AFG3L2 | 18p11 | Dominant hereditary ataxia SCA28 | 610246 | D | Loss | - |
| Afg3-like protein 2 | AFG3L2 | 18p11 | Spastic Ataxia-Neuropathy Syndrome | 604581 | R | Loss | KO exhibits a severe neurodegenerative phenotype |
| glycosylasparaginase | AGA | 4q34 | Aspartylglucosaminuria | 208400 | R | Loss | KO resembles disease |
| aspartoacylase (np) | ASPA | 17p13 | Canavan disease | 271900 | R | Loss | KO resembles disease |
| complement factor B | BF | 6p21 | Atypical hemolytic uremic syndrome | 235400 | R | Gain | - |
| procollagen C-proteinase | BMP1 | 8p21 | Osteogenesis imperfecta, type III | 259420 | R | Loss | - |
| complement component C1r | C1R | 12p13 | C1r deficiency | 216950 | R | Loss | - |
| complement component C1s | C1S | 12p13 | C1s deficiency | 120580 | R | Loss | - |
| complement component 2 | C2 | 6p21 | C2 deficiency | 217000 | R | Loss | Guinea pig model resembles disease |
| calpain 10 | CAPN10 | 2q37 | Autosomal recessive intellectual disability (ARID) | 605286 | R | (Loss) | - |
| calpain 3 | CAPN3 | 15q15 | Limb-girdle muscular dystrophy type 2A | 253600 | R | Loss | KO resembles disease |
| caspase-10 | CASP10 | 2q33 | Autoimmune lymphoproliferative syndrome (II) | 603909 | D,R | Loss | No mouse ortholog |
| caspase-2 | CASP2 | 11q22 | Autosomal recessive intellectual disability (ARID) | 600639 | R | (Loss) | - |
| caspase-8 | CASP8 | 2q33 | Autoimmune lymphoproliferative syndrome (I) | 601859 | R | Loss | KO embryonic lethality |
| tripeptidyl-peptidase I | CLN2 | 11p15 | Neuronal ceroid lipofuscinosis | 204500 | R | Loss | - |
| carboxypeptidase A6 | CPA6 | 8q13 | Duane retraction syndrome | 126800 | R | Loss | - |
| carboxypeptidase E | CPE | 4q33 | Hyperproinsulinemia and diabetes | 125853 | R | Loss | Fat mouse resembles disease |
| carboxypeptidase N | CPN1 | 10q24 | Carboxypeptidase N deficiency | 212070 | R | Loss | - |
| chymotrypsin C | CTRC | 1p36 | Hereditary pancreatitis | 167800 | D | Loss | - |
| cathepsin C | CTSC | 11q14 | Papillon-Lefevre and Haim-Munk syndromes | 245000 | R | Loss | KO does not resemble disease |
| cathepsin D | CTSD | 11p15 | Neuronal ceroid lipofuscinosis | 610127 | R | Loss | KO resembles disease |
| cathepsin K | CTSK | 1q21 | Pycnodysostosis | 265800 | R | Loss | KO resembles disease |
| cylindromatosis protein | CYLD1 | 16q12 | Cylindromatosis | 132700 | D | Loss | - |
| complement factor D | DF | 19p13 | DF deficiency | 134350 | R | Loss | KO resembles disease |
| desert hedgehog protein | DHH | 12q13 | Partial gonadal dysgenesis | 607080 | R | Loss | KO resembles disease |
| DJ-1 (putative protease) | DJ-1 | 1p36 | Parkinson disease type VII | 606324 | R | Loss | KO partially resembles disease |
| dihydropyrimidinase (np) | DPYS | 8q22 | Dihydropyrimidinase deficiency | 222748 | R | Loss | - |
| endothelin-converting enzyme 1 | ECE1 | 1p36 | Hirschprung disease | 142623 | D | Loss | KO partially resembles disease |
| neutrophil elastase | ELA2 | 19p13 | Cyclic neutropenia | 162800 | D | Gain | KO more susceptible to bacterial sepsis |
| coagulation factor Xa | F10 | 13q34 | Factor X deficiency | 227600 | R | Loss | KO embryonic lethality or fatal neonatal bleeding |
| coagulation factor Xia | F11 | 4q35 | Factor XI deficiency | 264900 | R | Loss | Cattle and dog models resemble disease |
| coagulation factor XIIa | F12 | 5q35 | Factor XII deficiency | 234000 | R | Loss | - |
| coagulation factor XIIa | F12 | 5q35 | Hereditary angioedema type III | 610619 | D | Gain | - |
| thrombin | F2 | 11p11 | Hyperprothrombinemia / hypoprothombinemia | 176930 | D/R | Loss | KO resembles disease |
| coagulation factor VIIa | F7 | 13q34 | Factor VIIa deficiency | 227500 | R | Loss | KO lethal, partially resembles disease |
| coagulation factor Ixa | F9 | Xq27 | Hemophilia B | 306900 | R | Loss | Mouse and dog models resemble disease |
| FACE1/ZMPSTE24 | FACE1 | 1p34 | Progeria, Mandibuloacral dysplasia | 248370 | R | Loss | KO resembles disease |
| gamma-glutamyltransferase 1 | GGT1 | 22q11 | Gamma-glutamyltransferase deficiency | 231950 | R | Loss | - |
| haptoglobin-1 (np) | HP | 16q22 | Anhaptoglobinemia | 140100 | R | Loss | KO resembles disease |
| osteoblast serine protease | HTRA1 | 10q26 | CARASIL | 600142 | - | Loss | - |
| Omi/HtrA2/PRSS25 | HTRA2 | 2p12 | Parkinson disease | 168600 | D | Loss | mnd2 mouse resembles disease |
| complement factor I | IF | 4q25 | CFI deficiency | 217030 | R | Loss | - |
| indian hedgehog protein | IHH | 2q35 | Brachydactyly type A1 | 112500 | D | Loss | KO resembles disease |
| mitoch. inner membrane protease 2 | IMMP2L | 7q31 | Gilles de la Tourette syndrome | 137580 | D | Loss | - |
| Kell blood-group protein | KEL | 7q35 | Kell blood group antigen | 110900 | R | Loss | - |
| kallikrein 4 | KLK4 | 19q13 | Hypomaturation amelogenesis imperfecta | 204700 | R | Loss | - |
| plasma kallikrein | KLKB1 | 4q35 | Prekallikrein deficiency | 229000 | R | Loss | - |
| mannan-binding serine protease 1 | MASP1 | 3q29 | 3MC | ?term=3MC | R | Loss | - |
| mannan-binding serine protease 2 | MASP2 | 1p36 | MASP2 deficiency | 605102 | R | Loss | - |
| S2P protease | MBTPS2 | Xp22 | Ichthyosis follicularis, atrichia, and photophobia syndrome (IFAP) | 308205 | - | Loss | - |
| ataxin 3 | MJD1 | 14q32 | Machado-Joseph disease | 109150 | D | (Gain) | Transgenic models partially resemble disease |
| neprilysin | MME | 3q26 | Fetomaternal alloimmunisation | 120520 | R | Loss | - |
| collagenase 3 | MMP13 | 11q22 | Spondyloepimetaphyseal dysplasia | 602111 | D | (Gain) | KO resembles disease |
| gelatinase A | MMP2 | 16q13 | Multicentric osteolysis with arthritis | 605156 | R | Loss | KO does not resemble disease |
| gelatinase B | MMP9 | 20q13 | Metaphyseal anadysplasia | 613073 | R | Loss | KO resembles disease |
| enamelysin | MMP20 | 11q22 | Amelogenesis imperfecta | 301200 | R | Loss | KO resembles disease |
| matriptase | MTSP1 | 11q24 | Ichthyosis with hypotrichosis | 606797 | R | Loss | KO resembles disease |
| nasal embryonic LHRH factor | NELFnp | 9q34 | Kallmann syndrome | 608137 | - | Loss | - |
| presenilins-assoc. rhomboid like | PARL | 3q27 | Parkinson's disease | 168600 | R | Loss | - |
| proprotein convertase 1 | PCSK1 | 5q15 | Obesity | 600955 | R | Loss | KO does not resemble disease |
| proprotein convertase 5 | PCSK5 | 9q21 | VACTERL/Caudal regression/Currarino syndrome-like | 192350 | R | Loss | KO resembles disease |
| proprotein convertase 9 | PCSK9 | 1p32 | Hyperlipoproteinemia type III | 144400 | D | (Gain) | - |
| X-Pro dipeptidase | PEPD | 19q13 | Prolidase deficiency | 170100 | R | Loss | - |
| PHEX endopeptidase | PHEX | Xp22 | X-linked hypophosphatemia | 307800 | D | Loss | Hyp mouse resembles disease |
| plasmin | PLG | 6q26 | Thrombophilia and ligneous conjunctivitis | 173350 | R | Loss | KO resembles disease |
| protease, serine, 56 | PRSS56 | 2q37 | Microphtalmia, Isolated 6 | 613517 | R | Loss | - |
| lysosomal carboxypeptidase A | PPGB | 20q13 | Galactosialidosis | 256540 | R | Loss | KO resembles disease |
| prolyl endopeptidase-like | PREPL | 2p21 | Hypotonia-cystinuria syndrome | 606407 | R | Loss | - |
| protein C | PROC | 2q21 | Thrombophilia | 176860 | D/R | Loss | KO resembles disease |
| cationic trypsin | PRSS1 | 7q35 | Hereditary pancreatitis / trypsin deficiency | 167800 | D/R | Gain/Loss | - |
| neurotrypsin | PRSS12 | 4q28 | Nonsyndromic mental retardation | 249500 | R | Loss | - |
| enteropeptidase | PRSS7 | 21q21 | Enteropeptidase deficiency | 226200 | R | Loss | - |
| presenilin 1 | PSEN1 | 14q24 | Alzheimer type 3 | 104311 | D | Gain | Transgenic models partially resemble disease |
| presenilin 1 | PSEN1 | 14q24 | Familial Acne Inversa | 142690 | D | Loss | Transgenic models partially resemble disease |
| presenilin 2 | PSEN2 | 1q42 | Alzheimer type 4 | 600759 | D | Gain | Transgenic models partially resemble disease |
| proteasome catalytic subunit 3i | PSMB8 | 6p21 | auto-inflammatory syndrome | 613732 | R | Loss | KO does not resemble disease |
| proteasome catalytic subunit 3i | PSMB8 | 6p21 | Nakajo-Nishimura syndrome | 256040 | R | Loss | |
| reelin | RELN | 7q22 | Lissencephaly syndrome | 257320 | R | Loss | Reeler mouse resembles disease |
| renin | REN | 1q32 | Renal tubular dysgenesis | 179820 | R | Loss | - |
| rhomboid 5 homolog 2 | RHBDF2 | 17q25 | Tylosis with esophageal cancer | 148500 | D | Mislocalization | - |
| sonic hedgehog protein | SHH | 7q36 | Holoprosencephaly type 3 | 142945 | D | Loss | KO resembles disease |
| paraplegin | SPG7 | 16q24 | Spastic paraplegia | 607259 | R | Loss | KO resembles disease |
| transferrin receptor 2 protein (np) | TFR2 | 7q22 | Hemochromatosis type 3 | 604250 | R | Loss | KO resembles disease |
| transmembrane protease, serine 3 | TMPRSS3 | 21q22 | Deafness | 605316 | R | Loss | - |
| matriptase 2 | TMPRSS6 | 22q12 | Iron-refractory iron deficiency anemia | 609862 | - | Loss | - |
| ubiquitin C-terminal hydrolase 1 | UCHL1 | 4p14 | Parkinson disease type V | 191342 | D | Loss | Gad mouse resembles disease |
| USP26 | USP26 | Xq26 | Sertoli cell-only syndrome | 305700 | R | Loss | - |
| USP9Y | USP9Y | Yq11 | Azoospermia and hypospermatogenesis | 415000 | D | Loss | - |
| aminopeptidase P homologue | XPNPEP3 | 22q13 | Nephronophthisis-like nephropathy | R | Loss | Suppression model phenocopies disease |