TTC19

Description

TTC19 is a gene that encodes a protein crucial for the assembly and function of mitochondrial complex I, a vital component of the electron transport chain. This complex plays a key role in cellular respiration, converting nutrients into energy. Mutations in TTC19 can disrupt mitochondrial function, leading to a range of human diseases.

Associated Diseases

• Leigh syndrome
• Mitochondrial complex I deficiency
• Neurodevelopmental disorders
• Myopathies

Did you know?

TTC19 is highly conserved across different species, highlighting its essential role in cellular function.