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proteolysis

Saturday 19 July 2003

Types

- ubiquitin-independent proteolysis
- ubiquitin-dependent proteolysis

Pathology of proteolysis

Anomalies of proteases genes (53 human diseases are caused by mutations in protease genes)

- nonsyndromic deafness (transmembrane serine protease TMPRSS3)

- early-onset familial Alzheimer’s disease (presenilin-1 PSEN1 and presenilin-2 PSEN2)

- pycnodysostosis (cathepsin-K CTSK) (MIM.265800)

- Papillon-Lefevre and Haim-Munk syndrome (MIM.245000)

- limb-girdle muscular dystrophy type 2A (MIM.253600) (calpain-3 CAPN3)

- familial cylindromatosis (MIM.132700)(CYLD cysteine protease gene)

- Parkinson’s disease type V (MIM.191342) (Ubiquitin C-terminal hydrolase 1 UCHL1)

- type I autoimmune lymphoproliferative syndrome (ALPS1)(MIM.601859) (caspase-8 CASP8 or caspase-8 CASP8)

- type II autoimmune lymphoproliferative syndrome (ALPS2) (MIM.603909) (caspase-8 CASP8 or caspase-10 CASP10)

- azoospermia and hypospermatogenesis (MIM.415000) (USP9Y)

- multicentric osteolysis with arthritis (MIM.605156) (gelatinase-A MMP2)

- thrombotic thrombocytopenic purpura (MIM.274150) (ADAMS-13)

- Ehlers-Danlos syndrome type VIIC (MIM.225410)

- Hirschsprung’s disease (MIM.142623) (endothelin-converting enzyme 1 ECE1)

- X-linked hypophosphatemia (MIM.307800) (PHEX endopeptidase)

- hyperproinsulinemia and diabetes (MIM.125853) (carboxypeptidase-E CPE)

- Gilles de la Tourette syndrome (MIM.137580) (mitochondrial inner-membrane protease 2) IMMP2L)

- prolidase deficiency (MIM.170100) (X-Pro dipeptidase)

- spastic paraplegia (MIM.607259) (paraplegin)

- enteropeptidase deficiency (MIM.226200) (enteropeptidase)

- C1r deficiency (MIM.216950) (C1r)

- C1s deficiency (MIM.120580) (C1s)

- C2 deficiency (MIM.217000) (C2)

- factor D deficiency (MIM.134350) (factor D)

- factor I deficiency (MIM.217030)

- prekallikrein deficiency (MIM.229000) (plasma kallicrein KLKB1)

- hyperprothrombinemia hypothrombinemia thrombin (F2) (MIM.176930)

- factor VIIa deficiency (MIM.227500) (factor VIIa F7)

- factor IXa deficiency (MIM.306900) (factor IXa F9)

- factor Xa deficiency (MIM.227600) (factor Xa F10)

Features

- extracellular proteolysis
- intracellular proteolysis

  • intramembrane proteolysis