Gene table of CLPP : caseinolytic mitochondrial matrix peptidase proteolytic subunit

Gene-disease associations table

Disease ID	Disease name	Source of annotation with CLPP	OMIM link	Number of associated genes	genes
PS233400	PERRAULT SYNDROME	ClinVar, OMIM, HUMSAVAR	link to OMIM	5	C10orf2, HARS2, LARS2, HSD17B4, CLPP

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

Associated GO terms for Molecular function

GO term	GO ID	GO IC
hydrolase activity	GO:0016787	1.9
endopeptidase activity	GO:0004175	3.63
serine-type endopeptidase activity	GO:0004252	4.4
serine hydrolase activity	GO:0017171	4.26
catalytic activity	GO:0003824	1.05
peptidase activity, acting on L-amino acid peptides	GO:0070011	3.26
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
peptidase activity	GO:0008233	3.23
identical protein binding	GO:0042802	2.63
serine-type peptidase activity	GO:0008236	4.27