Cysteine proteases and their genetic disorders
| Gene | Protein | Disorder | Transmission | Function | MIM | |||||
|---|---|---|---|---|---|---|---|---|---|---|
| AD, autosomal dominant; AR, autosomal recessive. | ||||||||||
| CTSK | Cathepsin K | Picnodystosis | AR | Bone remodelling | 265800 | |||||
| CTSC | Cathepsin C | Papillon-Lefevre syndrome | AR | Processing of serine proteases | 245000 | |||||
| CASP10 | Caspase 10 | ALPSII | AD and AR | Immune cell apoptosis | 603909 | |||||
| CASP8 | Caspase 8 | ALPSII | AR | Immune cell homeostasis | 607271 | |||||
| CAPN3 | Calpain 3 | LGMD2A | AR | Cytoskeleton remodelling | 253600 | |||||
| UCHL1 | Ub C terminal esterase 1 | Parkinson’s disease | AD | Degradation of α-synuclein | 168600 | |||||
| CYLD1 | Cyld protein | Cylindromatosis | AD | Negative regulator of the NFκB pathway | 132700 | |||||
| USP9Y | Ubiquitin specific protease 9, Y chromosome | Azoospermy | Y linked | Spermatogenesis | 415000 | |||||