LETM1 : leucine zipper and EF-hand containing transmembrane protein 1
Description
The LETM1 (leucine zipper and EF-hand containing transmembrane protein 1) is a protein-coding gene located on chromosome 4.
The LETM1 gene provides instructions for making a protein whose function is not well understood. This protein is active in mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. The LETM1 protein may be involved in the transport of charged calcium atoms (calcium ions) across membranes within mitochondria. Researchers suspect that the protein also plays a role in determining the shape and volume of mitochondria.
LETM1 plays a crucial role in maintaining mitochondrial morphology, including the tubular networks and cristae organization. It also mediates the exchange of ions across mitochondrial membranes, specifically facilitating the movement of calcium and potassium/proton. LETM1 is involved in the release of calcium from mitochondria in a proton-dependent manner, and it also functions as an electroneutral mitochondrial proton/potassium exchanger. This exchange activity is essential for the assembly of respiratory chain supercomplexes. These roles are supported by various studies (PubMed:18628306, PubMed:19797662, PubMed:24344246, PubMed:24898248, PubMed:29123128, PubMed:32139798, PubMed:36055214, PubMed:36321428).
LETM1 is also known as CONDMIM, KHE, Mdm38, SLC55A1.
Associated Diseases
- Wolf-Hirschhorn syndrome
- Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
