TTC5
Description
TTC5, also known as the tetratricopeptide repeat domain 5 gene, plays a crucial role in mitochondrial function. It encodes a protein that interacts with other proteins involved in mitochondrial processes such as protein import, assembly, and stability. TTC5 is highly expressed in tissues with high energy demands, highlighting its significance in maintaining cellular energy production. Mutations in the TTC5 gene have been linked to a range of human diseases, underscoring its importance in human health.
Associated Diseases
- Leigh syndrome
- Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
- Myoclonic epilepsy with ragged-red fibers (MERRF)
- Autosomal dominant optic atrophy (ADOA)
- Cardiomyopathy
Did you know?
TTC5 mutations can lead to a wide spectrum of clinical presentations, highlighting the complex interplay between mitochondrial dysfunction and human health.
