DISEASES

Disease-gene associations mined from literature

Literature on DIABLO

DIABLO [ENSP00000398495]

Second mitochondria-derived activator of caspase; Promotes apoptosis by activating caspases in the cytochrome c/Apaf-1/caspase-9 pathway. Acts by opposing the inhibitory activity of inhibitor of apoptosis proteins (IAP). Inhibits the activity of BIRC6/bruce by inhibiting its binding to caspases. Isoform 3 attenuates the stability and apoptosis- inhibiting activity of XIAP/BIRC4 by promoting XIAP/BIRC4 ubiquitination and degradation through the ubiquitin-proteasome pathway. Isoform 3 also disrupts XIAP/BIRC4 interacting with processed caspase-9 and promotes caspase-3 activation. Isoform 1 is defective in the capacity to down-regulate the XIAP/BIRC4 abundance; Deafness associated genes

Synonyms:  DIABLO,  A0A024RBT2,  F5GX50,  F5GXT8,  F5GYH3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM