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The LRPPRCgene encodes a leucine-rich pentatricopeptide repeat-containing protein (LRPPRC) that functions as a mitochondrial protein and an RNA-binding protein, playing a role in energy metabolism and other cellular processes. Mutations in the LRPPRCgene are associated with Leigh syndrome French-Canadian type (LSFC), a severe neurodegenerative disorder, and it is also implicated in some forms of cancer.

LRPPRCgene is associated with Leigh Syndrome French Canadian type, a rare, severe mitochondrial disorder. Within a specific French-Canadian community in Quebec, the carrier frequency for the LRPPRCmutation is estimated to be around 1:23, with an incidence of 1:2,063 for LSFC, making it a relatively common form of the disorder in that particular region.

An affected individual inherits two copies of the mutated gene, one from each parent. This condition affects mitochondrial energy production by disrupting mitochondrial mRNA stability, which can lead to symptoms such as lactic acidosis, neurological issues, and other multi-system problems.