proteolysis

Types

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)

azoospermia and hypospermatogenesis (MIM.415000) (USP9Y)

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

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

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