Table 1 Diseases associated with loss of protease function

Gene	Disease	Inheritance	OMIM	References
AFG3L2	Spinocerebellar ataxia type 28 (SCA28); spastic ataxia-neuropathy syndrome	Dominant; recessive	610246; 614487	^{17, 19}
CLPP	Perrault syndrome 3	Recessive	614129	⁶⁹
HTRA2	Parkinson disease type 13	Dominant	610297	^{70, 71, 72}
IMMP2L	Gilles de la Tourette syndrome	Dominant	137580	⁷³
LONP1	CODAS syndrome	Recessive	600373	⁷⁴
PARL	Parkinson disease	Recessive	168600	⁷⁵
PMPCB	Friedreich ataxia	Recessive	229300	^{76, 77}
SPG7	Hereditary spastic paraplegia 7 (HSP7)	Recessive	607259	^{16, 35}
XPNPEP3	Nephronophthisis-like nephropathy 1	Recessive	613159	⁷⁸
YME1L	Optic atrophy 11	Recessive	617302	¹⁵

OMIM, Online mendelian inheritance in Man database; AFG3L2, AFG3-like protein 2; CLPP, ATP-dependent Clp protease proteolytic subunit; HTRA2, high-temperature requirement protein A2; IMMP2L, mitochondrial inner membrane protease 2; LONP1, lon protease homologue; PARL, presenilins-associated rhomboidlike protein; PMPCB, peptidase mitochondrial processing beta subunit; SPG7, paraplegin; XPNPEP3, X-Pro aminopeptidase 3; YME1L1, ATP-dependent zinc metalloprotease YME1L1.

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