PMPCA

Description

The PMPCA (peptidase, mitochondrial processing subunit alpha) is a protein-coding gene located on chromosome 9.

PMPCA, the gene encoding Mitochondrial-processing peptidase subunit alpha, is responsible for producing a protein crucial for the import and processing of proteins within the mitochondria. The protein is a part of the peptidase M16 family and functions as a heterodimer with the beta subunit (PMPCB). The complex is known as Mitochondrial-processing peptidase (MPP), which is a metalloendopeptidase containing a catalytic site in the beta subunit. The precursor form of the PMPCA protein is 58.2 kDa and contains a targeting sequence that directs it to the mitochondria, where it is cleaved to its mature form of 54.6 kDa. The role of PMPCA is to recognize and bind to precursor proteins, facilitating their cleavage by the catalytic beta subunit, thereby enabling the proper processing and localization of proteins within the mitochondria.

PMPCA, also known as Alpha-MPP, is a substrate recognition and binding subunit of the essential mitochondrial processing protease (MPP). MPP is responsible for cleaving the mitochondrial targeting sequence off newly imported precursor proteins.

PMPCA is also known as Alpha-MPP, CLA1, CPD3, INPP5E, MAS2, P-55, SCAR2.

Associated Diseases

• Autosomal recessive cerebelloparenchymal disorder type 3
• Spinocerebellar ataxia, autosomal recessive 2