Large ribosomal subunit protein uL22

RPL17 encodes the large ribosomal subunit protein uL22, a structural component of the ribosome essential for protein synthesis in cells (UniProt: P18621). The protein is conserved across species and contributes to the assembly and function of the 60S ribosomal subunit.

RPL17 is primarily associated with Diamond-Blackfan anemia 22 (DBA22), an autosomal dominant ribosomopathy characterized by erythroid maturation failure and skeletal developmental defects (UniProt: P18621). Mutations in ribosomal protein genes, including RPL17, disrupt ribosomal biogenesis and function, leading to the characteristic hematologic and developmental phenotypes of this congenital disorder.

In Alzheimer's Disease, RPL17 is downregulated in post-mortem AD brain tissue compared to age-matched controls (mean log2FC: −0.28, Chaparral AD proteomics). The reduction was detected across subcellular fractions in TMT-labeled proteomics analysis, suggesting a disease-associated decrease in large ribosomal subunit composition or protein synthesis capacity in AD pathology.