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
Expression
All Expression Data
13 figures from Thisse et al., 2004
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With lrpprc Human Ortholog
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
Associated With lrpprc Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Domain IPR033443 Pentacotripeptide-repeat region of PRORP
Family IPR033490 Leucine-rich PPR motif-containing protein
Homologous_superfamily IPR011990 Tetratricopeptide-like helical domain superfamily
Repeat IPR002885 Pentatricopeptide repeat
Domain Details Per Protein
Protein Length Leucine-rich PPR motif-containing protein Pentacotripeptide-repeat region of PRORP Pentatricopeptide repeat Tetratricopeptide-like helical domain superfamily
UniProtKB:A4QNU0 960
UniProtKB:Q58EL8 532
UniProtKB:F5H8N4 1461
UniProtKB:Q58EG7 807
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations