DIABLO diablo IAP-binding mitochondrial protein [ Homo sapiens (human) ]
Source: NCBI Gene (ID 56616)
Source: NCBI Gene (ID 56616)
Symbol: DIABLO
Full name: diablo IAP-binding mitochondrial protein
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: DFNA64; SMAC
Summary: 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]
Expression: Ubiquitous expression in testis (RPKM 16.5), adrenal (RPKM 10.0) and 25 other tissues
Orthologs: mouse
Gene size: 19795bp
Exon count: 8