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LETM1 is 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.
Gene Name: | leucine zipper-EF-hand containing transmembrane protein 1 |
Synonyms: | LETM1, Mdm38 homolog |
Target Sequences: | NM_012318 NP_036450.1 O95202 |
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