MRPL13

The protein is a component of the large 39S subunit of mitochondrial ribosomes, which are responsible for protein synthesis within mitochondria. Mutations cause autosomal recessive mitochondrial disorders affecting multiple organ systems, typically presenting in infancy or early childhood with developmental delay, hypotonia, and metabolic dysfunction. This gene shows very low constraint against loss-of-function variants (pLI near 0), which is consistent with recessive inheritance patterns.