Gene Symbol | DIABLO |
Entrez Gene ID | 56616 |
Full Name | diablo IAP-binding mitochondrial protein |
Synonyms | DFNA64,SMAC |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Deafness, autosomal dominant 64, 614152 (3) |