LETM1

LETM1 (Leucine Zipper-EF-Hand Containing Transmembrane Protein 1) is a protein that in humans is encoded by the LETM1 gene. It is located on the mitochondrial inner membrane and plays a crucial role in the maintenance of normal mitochondrial morphology and function.

Function

The LETM1 protein is a member of the LETM1 domain containing family and is a mitochondrial inner membrane protein. It is involved in the regulation of ion transport, including calcium and potassium ions across the mitochondrial inner membrane. This regulation is essential for maintaining the normal morphology and function of mitochondria.

Clinical significance

Mutations in the LETM1 gene have been associated with Wolf-Hirschhorn syndrome, a complex genetic disorder that affects many parts of the body. The deletion of a small piece of chromosome 4, which includes the LETM1 gene, is thought to be a major contributor to the characteristic features of this syndrome.

Research

Research into the LETM1 gene and protein is ongoing, with studies focusing on its role in mitochondrial function and its potential involvement in other diseases. For example, some studies suggest that LETM1 may play a role in the development of certain types of cancer, although more research is needed to confirm these findings.

See also

• Mitochondria
• Wolf-Hirschhorn syndrome
• Ion transport

References

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