PMPCA

The protein encoded by this gene is found in the mitochondrion, where it represents the alpha subunit of a proteolytic heterodimer. This heterodimer is responsible for cleaving the transit peptide from nuclear-encoded mitochondrial proteins. Defects in this gene are a cause of spinocerebellar ataxia, autosomal recessive 2. [provided by RefSeq, Mar 2016]

Description

peptidase, mitochondrial processing alpha subunit

Protein family

Disease related genes, Enzymes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Potential drug targets, Predicted intracellular proteins, Protein evidence (Peptideatlas)

Chromosome

9:q34.3 (136410641 - 136423761)

Ensembl ID

ENSG00000165688  (ver. 99.38)

Orthologs

Mouse Pmpca: ENSMUSG00000026926

UniProt

Q10713

neXtProt

NX_Q10713

Human splice variants
Mouse splice variants