TMEM70

TMEM70 is a protein that in humans is encoded by the TMEM70 gene. This protein is involved in the assembly of the ATP synthase, a key enzyme in the process of cellular respiration.

Function

The TMEM70 protein is a component of the mitochondrial membrane, where it plays a crucial role in the assembly of the ATP synthase. This enzyme, also known as Complex V, is responsible for the final step of oxidative phosphorylation, the process by which cells generate adenosine triphosphate (ATP), the main source of energy for cellular processes.

Clinical significance

Mutations in the TMEM70 gene can lead to a deficiency in ATP synthase, resulting in a rare metabolic disorder known as TMEM70-related mitochondrial complex V deficiency. This condition is characterized by a wide range of symptoms, including neonatal onset of hypotonia, lactic acidosis, cardiomyopathy, and developmental delay.

Genetics

The TMEM70 gene is located on the short (p) arm of chromosome 8 at position 21.2. The gene spans approximately 20 kilobases and consists of 7 exons. The TMEM70 protein it encodes is 177 amino acids in length.

See also

• Mitochondrial disease
• ATP synthase
• Oxidative phosphorylation

External links

• TMEM70 at NCBI
• TMEM70 at Genetics Home Reference