DAP3
Description
The DAP3 (death associated protein 3) is a protein-coding gene located on chromosome 1.
DAP3, encoded by the DAP3 gene on chromosome 1, is a mitochondrial protein involved in translation, cellular respiration, and apoptosis. It is a component of the 28S subunit of the mitochondrial ribosome (mitoribosome) and plays a crucial role in translating the 13 ETC complex proteins encoded in the mitochondrial genome. This protein is linked to cancer development, potentially aiding some cancers while suppressing others. DAP3 features a P-loop motif for GTP binding and a conserved targeting sequence for mitochondrial localization. Several splice variants have been observed, primarily differing in the 5' UTR region. Pseudogenes are also present on chromosomes 1 and 2.
DAP3 plays a role in initiating cell death when triggered by interferon-gamma.
DAP3 is also known as DAP-3, MRP-S29, MRPS29, S29mt, bMRP-10, mS29.
Associated Diseases
- grange syndrome
- cancer
- isolated asymptomatic elevation of creatine phosphokinase
- plasma fibronectin deficiency
- pentosuria
- myopathy due to calsequestrin and SERCA1 protein overload
- metabolic myopathy due to lactate transporter defect
- hemoglobin D disease
- hemoglobin E disease
