OnlineIMD
Mitochondrial-processing peptidase alpha deficiency
Synonym(s)
Autosomal recessive spinocerebellar ataxia type 2
Type
Disease
External link(s)
Orphanet
IEMbase
Gene
PMPCA
/ Peptidase, mitochondrial processing alpha subunit
9p13.3
OMIM
GnomAD
Ensembl
HGNC
VMH
LOVD
Gene product
Peptidase, mitochondrial processing alpha subunit
Multimer
Mitochondrial-processing peptidase
Disease group(s)
11.3 Disorders of mitochondrial protein quality control