LETM1

LETM1

A gene on chromosome 4p16.3 that encodes a protein that localises to the inner mitochondrial membrane, which is responsible for maintaining mitochondrial morphology and cellular viability.

Molecular pathology
LETM1 mutations cause Wolf-Hirschhorn syndrome, a complex malformation syndrome.
References in periodicals archive ?
25 Mb in size and included LETM1, WHSC1, and FGFR3.
LETM1 (OMIM 604407), WHSC1 (OMIM 602952), and FGFR3 (OMIM 134934) were deleted in all patients evaluated by array CGH.
Patients detected by array CGH analysis have the deletion of LETM1 .
The signs and symptoms of WHS are related to the loss of genes WHSC1, LETM1, and MSX1 (20).