TOMM22
The TOMM22 Gene: A Vital Player in Mitochondrial Function and Disease
Introduction
The TOMM22 gene is a crucial gene that encodes a protein called translocase of outer mitochondrial membrane 22 (TOMM22). This protein is essential for the proper functioning of mitochondria, the energy powerhouses of our cells. Malfunctions in the TOMM22 gene can lead to various diseases associated with mitochondrial dysfunction.
Description
The TOMM22 gene is located on chromosome 15q21.1 in humans. It consists of 10 exons and spans approximately 10 kilobases. The TOMM22 protein is composed of 170 amino acids and is localized to the outer mitochondrial membrane.
Mitochondrial Function
TOMM22 plays a vital role in maintaining mitochondrial import of proteins. It is part of the TOM complex (translocase of outer mitochondrial membrane), which forms a pore-like structure in the mitochondrial outer membrane. Through this pore, proteins synthesized in the cytosol are imported into the mitochondrial matrix.
Associated Diseases
Mitochondrial diseases are a group of disorders caused by defects in mitochondrial function. Mutations in the TOMM22 gene have been linked to several types of mitochondrial encephalopathies, including:
- Leigh syndrome: A progressive neurological disorder characterized by severe brain dysfunction and early death.
- Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): A multi-system disorder featuring seizures, headaches, strokes, and muscle weakness.
- Kearns-Sayre syndrome: A mitochondrial disease affecting the eyes, heart, and brain, often resulting in progressive muscle weakness and visual impairment.
Did you Know ?
Mutations in the TOMM22 gene account for approximately 5% of all cases of mitochondrial encephalopathies.
