Abstract
LETM1 in mitochondrial cation transport.
Highlights
LETM1 encodes a highly conserved eukaryotic protein of the mitochondrial inner membrane which is essential to control mitochondrial volume homeostasis
LETM1 is associated with the WolfHirschhorn Syndrome (WHS), a complex multigenic disease caused by haploinsufficiency of the WHSCR 1 and 2 regions on chromosome 4 (Endele et al, 1999)
LETM1 (i) causes an increase of mitochondrial volume that can be reverted by nigericin
Summary
LETM1 (leucine zipper- EF handcontaining transmembrane 1) encodes a highly conserved eukaryotic protein of the mitochondrial inner membrane which is essential to control mitochondrial volume homeostasis. LETM1 has been originally proposed to be part of the mitochondrial K+H+ exchanger (KHE) (Nowikovsky et al, 2004; Hasegawa and van der Bliek, 2007; Dimmer et al, 2008; McQuibban et al, 2010; Hashimi et al, 2013), an essential element of Mitchell’s chemiosmotic theory (Mitchell, 1966, 2011).
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