LETM1

Chr 4AR

leucine zipper and EF-hand containing transmembrane protein 1

Also known as: CONDMIM, KHE, Mdm38, SLC55A1

NCBI Gene: 3954 ENSG00000168924 UniProt: O95202 OMIM: 604407

The LETM1 protein localizes to the inner mitochondrial membrane where it maintains mitochondrial tubular morphology and mediates calcium and potassium/proton transport across the membrane. Mutations cause childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction, inherited in an autosomal recessive pattern. The gene shows high constraint against loss-of-function variants (pLI near 1, LOEUF 0.738), indicating that complete loss of function is likely incompatible with survival.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…