TTC12

Description

TTC12, also known as tetratricopeptide repeat domain 12, is a gene that encodes a protein crucial for mitochondrial function. This protein plays a vital role in the assembly and stability of the mitochondrial respiratory chain complexes, which are responsible for energy production in cells. Mutations in the TTC12 gene can lead to a variety of mitochondrial disorders, affecting energy metabolism and cellular function.

Associated Diseases

• Mitochondrial Complex I Deficiency
• Leigh Syndrome
• Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS)
• Neurodegeneration with Brain Iron Accumulation (NBIA)
• Leigh-like Syndrome
• Mitochondrial Myopathy
• Hepatic Encephalopathy
• Severe Early-Onset Encephalopathy

Did you know?

TTC12 gene mutations are particularly common in individuals of Finnish descent, suggesting a founder effect.