Aliases for PMPCA Gene
External Ids for PMPCA Gene
Previous HGNC Symbols for PMPCA Gene
Previous GeneCards Identifiers for PMPCA Gene
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]
GeneCards Summary for PMPCA Gene
PMPCA (Peptidase, Mitochondrial Processing Alpha Subunit) is a Protein Coding gene. Diseases associated with PMPCA include Spinocerebellar Ataxia, Autosomal Recessive 2 and Nephronophthisis. Among its related pathways are Mitochondrial protein import and 3-phosphoinositide degradation. GO annotations related to this gene include metalloendopeptidase activity. An important paralog of this gene is UQCRC2.
UniProtKB/Swiss-Prot for PMPCA Gene
Cleaves presequences (transit peptides) from mitochondrial protein precursors.