Table 4

 Cysteine proteases and their genetic disorders

AD, autosomal dominant; AR, autosomal recessive.
CTSK Cathepsin KPicnodystosisARBone remodelling265800
CTSC Cathepsin CPapillon-Lefevre syndromeARProcessing of serine proteases245000
CASP10 Caspase 10ALPSIIAD and ARImmune cell apoptosis603909
CASP8 Caspase 8ALPSIIARImmune cell homeostasis607271
CAPN3 Calpain 3LGMD2AARCytoskeleton remodelling253600
UCHL1 Ub C terminal esterase 1Parkinson’s diseaseADDegradation of α-synuclein168600
CYLD1 Cyld proteinCylindromatosisADNegative regulator of the NFκB pathway132700
USP9Y Ubiquitin specific protease 9, Y chromosomeAzoospermyY linkedSpermatogenesis415000