Aliases for LETM1 Gene
External Ids for LETM1 Gene
Previous GeneCards Identifiers for LETM1 Gene
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]
GeneCards Summary for LETM1 Gene
LETM1 (Leucine Zipper And EF-Hand Containing Transmembrane Protein 1) is a Protein Coding gene. Diseases associated with LETM1 include Wolf-Hirschhorn Syndrome and Chromosomal Deletion Syndrome. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is LETM2.
UniProtKB/Swiss-Prot for LETM1 Gene
Mitochondrial proton/calcium antiporter that mediates proton-dependent calcium efflux from mitochondrion (PubMed:19797662). Crucial for the maintenance of mitochondrial tubular networks and for the assembly of the supercomplexes of the respiratory chain (PubMed:18628306). Required for the maintenance of the tubular shape and cristae organization (PubMed:18628306). In contrast to SLC8B1/NCLX, does not constitute the major factor for mitochondrial calcium extrusion (PubMed:24898248).