Large ribosomal subunit protein eL13

RPL13 encodes a large ribosomal subunit protein (eL13) that is a structural component of the ribosome, the cellular machine responsible for protein synthesis. It functions as part of the large subunit (LSU), contributing to the peptidyl transferase center and facilitating peptide bond formation during translation (UniProt: P26373). The protein also plays a role in ribosomal RNA maturation and bone development.

RPL13 is associated with spondyloepimetaphyseal dysplasia, Isidor-Toutain type (SEMDIST), an autosomal dominant skeletal disorder characterized by severe growth deficiency and epiphyseal changes (UniProt: P26373). Beyond this rare genetic disease, the protein has been curated as disease-relevant to Alzheimer's Disease in this dataset.

In Alzheimer's Disease, RPL13 shows an ambiguous direction of regulation across different subcellular fractions of post-mortem AD brain tissue compared to age-matched controls (Chaparral AD proteomics). The mean log2 fold-change is minimal at 0.071, suggesting little overall change in abundance despite differential representation across the two fractions examined in the TMT-based quantitative proteomics experiment.