LETM1 Antibodies

Target Information

This gene encodes a protein that is localized to the inner mitochondrial membrane. The protein functions to maintain the mitochondrial tubular shapes and is required for normal mitochondrial morphology and cellular viability. Mutations in this gene cause Wolf-Hirschhorn syndrome, a complex malformation syndrome caused by the deletion of parts of the distal short arm of chromosome 4. Related pseudogenes have been identified on chromosomes 8, 15 and 19.

Synonyms

Letm1; LETM1 and EF-hand domain-containing protein 1, mitochondrial; leucine zipper and EF-hand containing transmembrane protein 1; leucine zipper-EF-hand containing transmembrane protein 1; leucine zipper-EF-hand-containing transmembrane protein 1; Mdm38 homolog; Mitochondrial proton/calcium exchanger protein