LRPPRC
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Leucine-rich PPR motif-containing protein, mitochondrial is a protein that in humans is encoded by the LRPPRC gene.[1][2][3] Transcripts ranging in size from 4.8 to 7.0 kb which result from alternative polyadenylation have been reported for this gene.[3]
Function
[edit | edit source]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.[4]
Clinical significance
[edit | edit source]An integrative genomics strategy led to the discovery that mutations in LRPPRC cause the French-Canadian variant of Leigh syndrome.[5] Furthermore, mutation in the LRPPRC gene causes lowered expression of MT-CO1 (cytochrome c oxidase I) and MT-CO3.[6]
References
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Further reading
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External links
[edit | edit source]- LRPPRC human gene location in the UCSC Genome Browser.
- LRPPRC human gene details in the UCSC Genome Browser.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
