LETM1

Also known as leucine zipper and EF-hand containing transmembrane protein 1, SLC55A1

Leucine zipper-EF-hand containing transmembrane protein 1 is a protein that in humans is encoded by the LETM1 gene.

Gene data

LETM1

Name: leucine zipper and EF-hand containing transmembrane protein 1
Type: protein-coding
Position: 1,811,479–1,856,232 (−)
Aliases: CONDMIM, KHE, Mdm38, SLC55A1
Ensembl: ENSG00000168924
RefSeq RNA: NM_012318.3, XM_006713884.2, XM_047415673.1, XM_054349978.1, XM_054349979.1
RefSeq protein: NP_036450.1, XP_006713947.1, XP_047271629.1, XP_054205953.1, XP_054205954.1

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].