Aliases for APOPT1 Gene
External Ids for APOPT1 Gene
Previous HGNC Symbols for APOPT1 Gene
Previous GeneCards Identifiers for APOPT1 Gene
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]
GeneCards Summary for APOPT1 Gene
APOPT1 (Apoptogenic 1, Mitochondrial) is a Protein Coding gene. Diseases associated with APOPT1 include mitochondrial complex iv deficiency.
UniProtKB/Swiss-Prot for APOPT1 Gene
Plays a role in the regulation of apoptosis. Mediates mitochondria-induced cell death in vascular smooth muscle cells through the release of cytochrome c from mitochondria, followed by the activation of the caspase cascade.