LETM1 Antibody (D-3): sc-271234

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LETM1 (Leucine zipper-EF-hand-containing transmembrane protein 1, mitochondrial) is a 739 amino acid protein that localizes to the mitochondrial membrane and contains one LETM1 domain and two EF-hand calcium-binding domains. Expressed in all fetal and adult tissues, LETM1 has a leucine zipper motif, a transmembrane domain and several phosphorylation sites and, via its EF-hand domains, may function as a calcium-binding protein. Additionally, LETM1 is thought to be involved in maintaining normal mitochondrial function and overall cell viability. Human LETM1 shares 84% similarity with its mouse counterpart, suggesting a conserved role between species. Deletions in the gene encoding LETM1 are associated with Wolf-Hirschhorn syndrome (WHS), a congenital syndrome characterized by a number of abnormalities, including mental retardation, seizures, heart defects, fused teeth, hearing loss, a webbed neck and renal abnormalities.