LRPPRC

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

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]

AliasesLRPPRC, CLONE-23970, GP130, LRP130, LSFC, leucine rich pentatricopeptide repeat containing, MC4DN5
End43,996,226 bp[1]
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LRPPRC
Identifiers
AliasesLRPPRC, CLONE-23970, GP130, LRP130, LSFC, leucine rich pentatricopeptide repeat containing, MC4DN5
External IDsOMIM: 607544; MGI: 1919666; HomoloGene: 32695; GeneCards: LRPPRC; OMA:LRPPRC - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_133259

NM_028233

RefSeq (protein)

NP_573566

NP_082509

Location (UCSC)Chr 2: 43.89 – 44 MbChr 17: 85.01 – 85.1 Mb
PubMed search[3][4]
Wikidata
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Function

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]

Clinical significance

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]

References

Further reading

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