Gene table of PMPCA : peptidase, mitochondrial processing alpha subunit

Gene-disease associations table

Disease ID	Disease name	Source of annotation with PMPCA	OMIM link	Number of associated genes	genes
213200	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 2	ClinVar, OMIM	link to OMIM	1	PMPCA

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

REACTOME pathway	REACTOME ID	REACTOME IC
Mitochondrial protein import	R-HSA-1268020	7.28
Metabolism of proteins	R-HSA-392499	3.41

Associated GO terms for Molecular function

GO term	GO ID	GO IC
hydrolase activity	GO:0016787	1.9
endopeptidase activity	GO:0004175	3.63
metalloendopeptidase activity	GO:0004222	5.02
transition metal ion binding	GO:0046914	2.48
cation binding	GO:0043169	1.4
ion binding	GO:0043167	1.36
catalytic activity	GO:0003824	1.05
peptidase activity, acting on L-amino acid peptides	GO:0070011	3.26
binding	GO:0005488	0.18
peptidase activity	GO:0008233	3.23
metal ion binding	GO:0046872	1.41
metallopeptidase activity	GO:0008237	4.5
zinc ion binding	GO:0008270	2.66