LRPPRC

Leucine-rich PPR motif-containing protein, mitochondrial is a is_associated_with::protein that in humans is encoded by the LRPPRC is_associated_with::gene. Transcripts ranging in size from 4.8 to 7.0 kb which result from alternative polyadenylation have been reported for this gene.

Function
This gene encodes a protein that is leucine-rich and is thought to play a role in regulating the interaction of the is_associated_with::cytoskeleton with a variety of cellular processes.

Clinical significance
An integrative genomics strategy led to the discovery that mutations in LRPPRC cause the French-Canadian variant of is_associated_with::Leigh syndrome. Furthermore mutation in the LRPPRC gene causes lowered expression of is_associated_with::MT-CO1 (cytochrome c oxidase I) and is_associated_with::MT-CO3.