Aliases for DIABLO Gene
External Ids for DIABLO Gene
Previous GeneCards Identifiers for DIABLO Gene
This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the cytosol when cells undergo apoptosis, and allows activation of caspases by binding to inhibitor of apoptosis proteins. Overexpression of the encoded protein sensitizes tumor cells to apoptosis. A mutation in this gene is associated with young-adult onset of nonsyndromic deafness-64. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]
GeneCards Summary for DIABLO Gene
DIABLO (Diablo IAP-Binding Mitochondrial Protein) is a Protein Coding gene. Diseases associated with DIABLO include Deafness, Autosomal Dominant 64 and Autosomal Dominant Non-Syndromic Sensorineural Deafness Type Dfna. Among its related pathways are Apoptosis Modulation and Signaling and Apoptosis and survival_Regulation of Apoptosis by Mitochondrial Proteins. An important paralog of this gene is ENSG00000284934.
UniProtKB/Swiss-Prot Summary for DIABLO Gene
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.