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. [provided by RefSeq, Oct 2009].
Synonyms: LETM 1, LETM1 and EF hand domain containing protein 1, mitochondrial, LETM1 and EF-hand domain-containing protein 1, Letm1, LETM1_HUMAN, Leucine zipper EF hand containing transmembrane protein 1, Leucine zipper-EF-hand-containing transmembrane protein 1, Mdm38 homolog, mitochondrial, ZNF300 bs-0628R