Small ribosomal subunit protein mS29

Summary

DAP3 (small ribosomal subunit protein mS29) is a mitochondrial ribosomal protein that functions in translation of mitochondrial mRNAs and exhibits GTPase activity (UniProt: P51398). It also mediates interferon-gamma-induced cell death. The protein is a component of the mitochondrial translation machinery, reflecting its role in energy metabolism and mitochondrial protein synthesis.

Mutations in DAP3 are associated with Perrault syndrome 7 (PRLTS7, MIM 621101), an autosomal recessive disorder characterized by sensorineural deafness and, in females, ovarian dysgenesis; some affected individuals show neurologic features (UniProt: P51398). This links the protein to both hearing and neuronal function.

DAP3 is downregulated in post-mortem Alzheimer's disease brain tissue compared to age-matched controls (Chaparral AD proteomics), with a mean log2 fold-change of −0.72 across quantified subcellular fractions. This reduction may reflect altered mitochondrial translation capacity in AD, consistent with mitochondrial dysfunction observed in the disease.