Gene Symbol | APOPT1 |
Entrez Gene ID | 84334 |
Full Name | apoptogenic 1, mitochondrial |
Synonyms | APOP,APOP1,C14orf153 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]. |
Disorder MIM: | |
Disorder Html: | Mitochondrial complex IV deficiency, 220110 (3) |