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 ?
Pathway Count p value Genes Mitogen-activated 8 0.000442 HCAR1, RPS6KA2, protein kinase PEBP4, RIT2, (hsa04010) MAPK8IP2, MLLT10, CDK5RAP1, HAS1 Insulin receptor 4 0.000793 LETM1, CISH, RIT2, (hsa04910) SOCS3 Jak-STAT signaling 5 0.000731 BATF2, CISH, SOCS3, pathway (hsa04630) MLLT10, CXCL10 Interleukin 4 0.00139 IL1A, IL15RA, NOS3, signaling pathway RPS6KA2 (P00970) Interferon-gamma 2 0.02225 SOCS3, CISH signaling pathway (P00035)
A possible molecular candidate for the H+/[Ca.sup.2+] exchange (Letm1) was reported in 2009 [74], although this proposal is still controversial [75, 76].
Clapham, "Genome-wide RNAi screen identifies Letm1 as a mitochondrial [Ca.sup.2+]/[H.sup.+] antiporter," Science, vol.
Miller, "Functional reconstitution of the mitochondrial [Ca.sup.2+]/[H.sup.+] antiporter Letm1," The Journal of General Physiology, vol.
Demaurex, "NCLX protein, but not LETM1, mediates mitochondrial [Ca.sup.2+] extrusion, thereby limiting [Ca.sup.2+]-induced NAD(P)H production and modulating matrix redox state," Journal of Biological Chemistry, vol.
The 4p deletions ranged from 2.62 Mb to 17.25 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.{Figure 1}{Figure 2}{Figure 3}{Table 2}
Patients detected by array CGH analysis have the deletion of LETM1 .
The main reason is that haploinsufficiency of the core candidate genes, WHSC1 , LETM1 , and FGFR3 , is responsible for most of the WHS characteristics.
The signs and symptoms of WHS are related to the loss of genes WHSC1, LETM1, and MSX1 (20).