LRPPRC: Leucine Rich Pentatricopeptide Repeat Containing Protein
A key regulator of mitochondrial gene expression and oxidative phosphorylation
Gene Information Card
| Symbol | LRPPRC |
|---|---|
| Full Name | Leucine Rich Pentatricopeptide Repeat Containing Protein |
| Gene Type | Protein coding |
| Chromosomal Location | 2p21 |
| NCBI Gene ID | 10128 ncbi.nlm.nih.gov/gene/10128 |
| Ensembl ID | ENSG00000138095 |
| UniProt ID | P42704 |
| OMIM ID | 607544 |
| HGNC ID | 6694 |
| Aliases | LRP130, gp130, LRP 130 |
Description
LRPPRC encodes a leucine-rich pentatricopeptide repeat containing protein that localizes to mitochondria. It is essential for mitochondrial RNA stability, polyadenylation, and translation, particularly for transcripts encoding subunits of the oxidative phosphorylation complexes. Mutations in LRPPRC cause Leigh syndrome French-Canadian type (LSFC), a severe neurodegenerative disorder characterized by cytochrome c oxidase (COX) deficiency.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Leigh syndrome French-Canadian type (LSFC) | Loss-of-function mutations impair mitochondrial mRNA processing and translation, leading to COX deficiency and energy failure in the brain | OMIM #220111; ClinVar |
| Cytochrome c oxidase deficiency | LRPPRC mutations disrupt assembly/stability of COX subunits, reducing complex IV activity | OMIM; PubMed studies |
| Mitochondrial complex IV deficiency, nuclear type 5 | Biallelic pathogenic variants in LRPPRC cause this specific nuclear-encoded COX deficiency | OMIM #220111 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.8 | Medium |
| Heart | 11.5 | Medium |
| Brain | 9.2 | Medium |
| Kidney | 8.7 | Medium |
| Skeletal muscle | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.3 | Ubiquitous expression |
| HEK 293 | 13.1 | High expression |
| SH-SY5Y | 10.5 | Neuronal model |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1279C>T (p.Arg427*) | Nonsense | Rare (founder in French-Canadian population) | Loss of function; truncation of protein |
| c.1119_1123del (p.Glu374Alafs*3) | Frameshift deletion | Rare | Loss of function; premature stop |
| c.1964T>C (p.Leu655Pro) | Missense | Rare | Impaired RNA binding and mitochondrial localization |
Mutation functional classification
Loss of Function (LOF)
Most LRPPRC mutations are loss-of-function, leading to reduced mitochondrial mRNA stability and COX deficiency.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mechanism described; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Mitochondrial gene expression (Reactome: R-HSA-5368287)
• Oxidative phosphorylation (KEGG: hsa00190)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
LRPPRC is a 130 kDa mitochondrial matrix protein containing multiple pentatricopeptide repeat (PPR) domains. It binds mitochondrial mRNAs and is required for their polyadenylation, stability, and translation. The protein interacts with SLIRP to form a complex that protects mitochondrial transcripts from degradation. Loss of LRPPRC function leads to severe mitochondrial respiratory chain defects, particularly complex IV (cytochrome c oxidase) deficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| Lrpprc Knockout MC-38 Cell Line | EDJ-KZ34 | Mouse | 10128 | Details Get a Quote |
| Lrpprc Knockout CT26.WT Cell Line | EDJ-KZ339 | Mouse | 72416 | Details Get a Quote |
