LETM1

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]

Description

leucine zipper-EF-hand containing transmembrane protein 1

Protein family

Membrane proteins predicted by MDM, Transporters

Chromosome

4:p16.3 (1813206 - 1857974)

Ensembl ID

ENSG00000168924  (ver. 69.37)

Orthologs

Mouse Letm1: ENSMUSG00000005299

Human splice variants
Mouse splice variants