Aliases for PARL Gene
External Ids for PARL Gene
Previous HGNC Symbols for PARL Gene
Previous GeneCards Identifiers for PARL Gene
This gene encodes a member of the rhomboid family of intramembrane serine proteases that is localized to the inner mitochondrial membrane. The encoded protein regulates mitochondrial remodeling and apoptosis through regulated substrate proteolysis. Proteolytic processing of the encoded protein results in the release of a small peptide, P-beta, which may transit to the nucleus. Mutations in this gene may be associated with Parkinson's disease. [provided by RefSeq, May 2016]
GeneCards Summary for PARL Gene
PARL (Presenilin Associated Rhomboid Like) is a Protein Coding gene. Diseases associated with PARL include Early-Onset Parkinson's Disease and Primary Angle-Closure Glaucoma. Gene Ontology (GO) annotations related to this gene include serine-type endopeptidase activity and endopeptidase activity. An important paralog of this gene is ENSG00000283765.
UniProtKB/Swiss-Prot Summary for PARL Gene
Required for the control of apoptosis during postnatal growth. Essential for proteolytic processing of an antiapoptotic form of OPA1 which prevents the release of mitochondrial cytochrome c in response to intrinsic apoptotic signals (By similarity). Required for the maturation of PINK1 into its 52kDa mature form after its cleavage by mitochondrial-processing peptidase (MPP) (PubMed:22354088). Promotes changes in mitochondria morphology regulated by phosphorylation of P-beta domain (PubMed:14732705, PubMed:17116872).