GOSR2

Description

The GOSR2 gene, also known as mitochondrial ribosomal protein L27, plays a crucial role in the assembly and function of the mitochondrial ribosome, a critical organelle responsible for protein synthesis within the mitochondria. GOSR2 is highly conserved across species, highlighting its essential role in cellular energy production. This gene‘s mutations can lead to a range of mitochondrial disorders, affecting multiple organ systems. Understanding GOSR2‘s function and its association with disease is crucial for developing effective diagnostic and therapeutic strategies.

Associated Diseases

• Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS)
• Leigh Syndrome
• Myoclonic Epilepsy with Ragged Red Fibers (MERRF)
• Mitochondrial Complex I Deficiency
• Deafness
• Diabetes Mellitus
• Cardiomyopathy

Did you know?

Mutations in GOSR2 can be inherited from either parent, but the severity of the disease can vary significantly between individuals with the same mutation.