DISEASES

Disease-gene associations mined from literature

Literature associating OMA1 and cranial nerve disease

OMA1 [ENSP00000360270]

Overlapping with the m-AAA protease 1 homolog; Metalloprotease that is part of the quality control system in the inner membrane of mitochondria. Following stress conditions that induce loss of mitochondrial membrane potential, mediates cleavage of OPA1 at S1 position, leading to OPA1 inactivation and negative regulation of mitochondrial fusion. May also cleave UQCC3 under these conditions. Its role in mitochondrial quality control is essential for regulating lipid metabolism as well as to maintain body temperature and energy expenditure under cold-stress conditions; Belongs to the peptidase M48 family.

Synonyms:  OMA1,  OMA1p,  hOMA1,  Q96E52,  S4R3A3 ...

Linkouts:  STRING  Pharos  UniProt