Gene
mtrfr
- ID
- ZDB-GENE-130109-1
- Name
- mitochondrial translation release factor in rescue
- Symbol
- mtrfr Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 5 Mapping Details/Browsers
- Description
- Predicted to have translation release factor activity. Predicted to be involved in translational termination. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 7 and hereditary spastic paraplegia 55. Orthologous to human C12orf65 (chromosome 12 open reading frame 65).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
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 |
|---|---|---|---|
| combined oxidative phosphorylation deficiency 7 | Alliance | Combined oxidative phosphorylation deficiency 7 | 613559 |
| hereditary spastic paraplegia 55 | Alliance | Spastic paraplegia 55, autosomal recessive | 615035 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Mitochondrial Translation Release Factor | Peptide chain release factor class I | Peptide chain release factor class I superfamily |
|---|---|---|---|---|
|
UniProtKB:A5WUX7
|
||||
|
UniProtKB:Z4YJA1
|
137 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
si:ch211-275j6.5-201
(1)
|
Ensembl | 796 nt | ||
| mRNA |
si:ch211-275j6.5-202
(1)
|
Ensembl | 1,007 nt |
Interactions and Pathways
No data available
Plasmids
No data available