Based on limited published evidence, MRPS14 encodes a mitochondrial small ribosomal subunit protein essential for mitochondrial translation. It functions as a structural constituent of the mitochondrial ribosome, binding RNA and proteins within the mitochondrial inner membrane. MRPS14 mutations cause Combined oxidative phosphorylation deficiency 38. A pathogenic homozygous variant impaired mitochondrial translation and caused perinatal hypertrophic cardiomyopathy with lactic acidosis, growth retardation, and neurological involvement 1. The mutation disrupted the ribosomal mRNA channel, impairing translation elongation or mRNA recruitment rather than ribosomal assembly.