TTC37 : tetratricopeptide repeat domain 37

Description

TTC37, also known as tetratricopeptide repeat domain 37, is a gene that encodes a protein crucial for mitochondrial function. This protein plays a role in the assembly and stability of mitochondrial respiratory chain complexes, which are essential for cellular energy production. Mutations in TTC37 have been linked to various neurological disorders, impacting brain development and function. Understanding the intricacies of TTC37's role in mitochondrial biology is crucial for developing targeted therapies for these debilitating conditions.

Associated Diseases

• Leigh Syndrome
• Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS)
• Neurodevelopmental Disorders

Did you know?

TTC37 mutations can be inherited in an autosomal recessive pattern, meaning that an individual needs to inherit two copies of the mutated gene, one from each parent, to develop the associated disorder.