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 mitochondrial integral membrane protein. Following proteolytic processing of this protein, a small peptide (P-beta) is formed and translocated to the nucleus. This gene may be involved in signal transduction via regulated intramembrane proteolysis of membrane-tethered precursor proteins. Variation in this gene has been associated with increased risk for type 2 diabetes. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
GeneCards Summary for PARL Gene
PARL (Presenilin Associated, Rhomboid-Like) is a Protein Coding gene. GO annotations related to this gene include serine-type endopeptidase activity and endopeptidase activity.
UniProtKB/Swiss-Prot 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 apoptoptic signals (By similarity). Promotes changes in mitochondria morphology regulated by phosphorylation of P-beta domain.