LRPPRC

Description

The LRPPRC gene, encodes a protein crucial for mitochondrial function. It interacts with a variety of other proteins, forming a complex that regulates mitochondrial mRNA stability and translation. This complex plays a vital role in the production of essential proteins required for energy production within cells. Mutations in the LRPPRC gene can lead to various mitochondrial disorders, affecting different organs and tissues.

Associated Diseases

• Leigh Syndrome
• Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)
• Myoclonic Epilepsy with Ragged Red Fibers (MERRF)
• Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP)
• Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS)
• Progressive External Ophthalmoplegia (PEO)

Did you know?

LRPPRC gene mutations can have different clinical presentations depending on the specific mutation and the affected tissues.