Gene
lrpprc
- ID
- ZDB-GENE-030131-7887
- Name
- leucine-rich pentatricopeptide repeat containing
- Symbol
- lrpprc Nomenclature History
- Previous Names
-
- fc13c04
- im:7150924
- im:7151572
- wu:fc13c04
- wu:fj38h02
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in French Canadian Leigh disease and Leigh disease. Is expressed in several structures, including alar plate midbrain region; digestive system; musculature system; nervous system; and segmental plate. Orthologous to human LRPPRC (leucine rich pentatricopeptide repeat containing).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 13 figures from Thisse et al., 2004
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7151572 (9 images)
- IMAGE:7150924 (8 images)
- IMAGE:7165989 (1 image)
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| French Canadian Leigh disease | Alliance | Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) | 220111 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Leucine-rich PPR motif-containing protein | Pentatricopeptide repeat | PROP1-like, PPR domain | Tetratricopeptide-like helical domain superfamily |
|---|---|---|---|---|---|
|
UniProtKB:A4QNU0
|
960 | ||||
|
UniProtKB:A0A8N1TT16
|
1436 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
lrpprc-201
(1)
|
Ensembl | 4,829 nt |
Interactions and Pathways
No data available
Plasmids
No data available