LRPPRC

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]

LRPPRC
Identifiers
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
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2p21 Start 43,886,224 bp[1] End 43,996,226 bp[1]
Gene location (Mouse) Chr. Chromosome 17 (mouse)[2] Band 17|17 E4 Start 85,012,675 bp[2] End 85,098,217 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in Skeletal muscle tissue of rectus abdominis biceps brachii mucosa of sigmoid colon body of tongue kidney tubule Skeletal muscle tissue of biceps brachii gonad jejunum mucosa of transverse colon skin of thigh Top expressed in cardiac muscle tissue of left ventricle interventricular septum choroid plexus of fourth ventricle plantaris muscle extensor digitorum longus muscle epiblast extraocular muscle right ventricle soleus muscle thoracic diaphragm More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding single-stranded DNA binding microtubule binding ubiquitin protein ligase binding beta-tubulin binding actin filament binding DNA binding endonuclease activity RNA binding Cellular component condensed nuclear chromosome nuclear inner membrane mitochondrial nucleoid perinuclear region of cytoplasm cytoplasm cytoskeleton nucleoplasm microtubule nuclear outer membrane membrane mitochondrion nucleus ribonucleoprotein complex Biological process regulation of transcription, DNA-templated mRNA transport mitochondrion transport along microtubule transcription, DNA-templated negative regulation of mitochondrial RNA catabolic process regulation of mitochondrial translation RNA modification nucleic acid phosphodiester bond hydrolysis transport Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 10128 72416 Ensembl ENSG00000138095 ENSMUSG00000024120 UniProt P42704 Q6PB66 RefSeq (mRNA) NM_133259 NM_028233 RefSeq (protein) NP_573566 NP_082509 Location (UCSC) Chr 2: 43.89 – 44 Mb Chr 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]