DISEASES

Disease-gene associations mined from literature

Literature associating PARL and cranial nerve disease

PARL [ENSP00000325421]

Presenilins-associated rhomboid-like protein, mitochondrial; 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) . Promotes changes in mitochondria morphology regulated by phosphorylation of P- beta domain .

Synonyms:  PARL,  A0A1W2PP66,  A0A1W2PS40,  C9JNP8,  F8WCQ4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM