DISEASES

Disease-gene associations mined from literature

Literature associating APOO and 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome

APOO [ENSP00000368528]

MICOS complex subunit MIC26; Component of the MICOS complex, a large protein complex of the mitochondrial inner membrane that plays crucial roles in the maintenance of crista junctions, inner membrane architecture, and formation of contact sites to the outer membrane. Plays a crucial role in crista junction formation and mitochondrial function . Can promote cardiac lipotoxicity by enhancing mitochondrial respiration and fatty acid metabolism in cardiac myoblasts . Promotes cholesterol efflux from macrophage cells. Detected in HDL, LDL and VLDL. Secreted by a microsomal triglyceride transfer protein (MTTP)-dependent mechanism, probably as a VLDL-associated protein that is subsequently transferred to HDL ; Belongs to the apolipoprotein O/MICOS complex subunit Mic27 family.

Synonyms:  APOO,  A0A0J9YWW6,  A0A0J9YXS4,  A0A0J9YXT7,  G3V1B6 ...

Linkouts:  STRING  Pharos  UniProt  OMIM