Serine proteases and their genetic disorders
| Gene | Protein | Disorder | Trans | Function | MIM | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| Trans, mode of transmission; AD, autosomal dominant; AR, autosomal recessive. | ||||||||||
| PRSS1 | Cationic trypsin | Pancreatitis | AD | Digestion | 167800 | |||||
| PRSS7 | Enterokinase | Malabsorption | AR | Digestion | 226200 | |||||
| F7 | Factor VII | Haemophilia | AR | Procoagulation | 227500 | |||||
| F9 | Factor IX | Haemophilia B | X linked | Procoagulation | 306900 | |||||
| F10 | Factor X | Haemophilia | AR | Procoagulation | 227600 | |||||
| F11 | Factor XI | Haemophilia C | AR | Procoagulation | 264900 | |||||
| F12 | Factor XII | Haemophilia | AR | Procoagulation | 234000 | |||||
| F2 | Prothrombin | Haemophilia | AR | Procoagulation | 176930 | |||||
| F2 | Prothrombin | Thrombophilia | AD | Procoagulation | 176930.0009 | |||||
| PROC | Protein C | Thrombophilia | AR | Anticoagulant | 176860 | |||||
| PLAT | Tissue plasminogen activator | Thrombophilia | AR | Anticoagulant | 173370 | |||||
| PLG | Plasminogen. | Thrombophilia | AR | Anticoagulant | 173350 | |||||
| C1R | C1r | Complement deficiency | AR | Complement | 216950 | |||||
| C1S | C1s | Complement deficiency | AR | Complement | 120580 | |||||
| C2 | C2 | Complement deficiency | AR | Complement | 217000 | |||||
| MASP2 | MASP2 protein | Complement deficiency | AR | Complement | 605102 | |||||
| CFI | Complement factor I | Complement deficiency | AR | Complement | 217030 | |||||
| PRSS12 | Neurotrypsin | Learning disabilities | AR | Remodelling of nervous tissue | 249500 | |||||
| TMPRSS3 | Transmembrane protease, serine 3 | Deafness | AR | Activation of ENaC | 605316 DFNB10, 601072 DFNB8 | |||||
| PC1 | Prohormone convertase-1 | Obesity | AR | Processing of prohormone | 600955 | |||||
| PCSK9 | NARC1 | Hyper-cholesterolaemia | AD | Cholesterol level | 603776 | |||||
| ELA2 | Neutrophil elastase | Neutropenia | AD | Differentiation myeloid precursors | 202700, 162800 | |||||
| RELN | Reelin | Lissencephaly | AR | Not known | 257320 | |||||
| CLN2 | Tripeptidyl-peptidase I | Ceroid lipofuscinosis | AR | Lysosome | 204500 | |||||
| CTSA | Cathepsin A | Galactosialidosis | AR | Lysosome | 256540 | |||||