LRPPRC | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | LRPPRC , CLONE-23970, GP130, LRP130, LSFC, leucine rich pentatricopeptide repeat containing, MC4DN5 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 607544; MGI: 1919666; HomoloGene: 32695; GeneCards: LRPPRC; OMA:LRPPRC - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Leucine-rich PPR motif-containing protein, mitochondrial is a protein that in humans is encoded by the LRPPRC gene. [5] [6] [7] Transcripts ranging in size from 4.8 to 7.0 kb which result from alternative polyadenylation have been reported for this gene. [7]
This gene encodes a protein that is leucine-rich and is thought to play a role in regulating the interaction of the cytoskeleton with a variety of cellular processes. [8]
An integrative genomics strategy led to the discovery that mutations in LRPPRC cause the French-Canadian variant of Leigh syndrome. [9] Furthermore, mutation in the LRPPRC gene causes lowered expression of MT-CO1 (cytochrome c oxidase I) and MT-CO3. [10]
This article incorporates text from the United States National Library of Medicine, which is in the public domain.