TIMM8A

TIMM8A is a gene that provides instructions for making a protein that is involved in the transport of proteins into the mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. This protein is found in many types of cells, including cells in the brain, muscles, and heart. Mutations in the TIMM8A gene cause a condition called Mohr-Tranebjaerg syndrome.

Function

The TIMM8A gene provides instructions for making a protein that is involved in the transport of proteins into the mitochondria. This protein is part of a group of proteins known as the translocase of the inner mitochondrial membrane 8 (TIMM8) complex. The TIMM8 complex helps guide proteins that are produced in the cytoplasm (the fluid inside cells) into the mitochondria.

Clinical significance

Mutations in the TIMM8A gene cause Mohr-Tranebjaerg syndrome, a condition characterized by hearing loss, vision problems, and neurological issues. These mutations disrupt the function of the TIMM8A protein, impairing the transport of proteins into the mitochondria. This disrupts the normal function of mitochondria and leads to the signs and symptoms of Mohr-Tranebjaerg syndrome.

See also

• Mitochondria
• Mohr-Tranebjaerg syndrome
• Gene
• Mutation

References

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External links

• TIMM8A on the Genetics Home Reference website
• TIMM8A on the National Center for Biotechnology Information website