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LETM1

Official Full Name
leucine zipper and EF-hand containing transmembrane protein 1
Organism
Homo sapiens
GeneID
3954
Background
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
KHE; Mdm38; CONDMIM; SLC55A1;

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