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 enable translation release factor activity. Predicted to act upstream of or within translational termination. Predicted to be located in mitochondrion. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 7 and hereditary spastic paraplegia 55. Orthologous to human MTRFR (mitochondrial translation release factor in rescue).
- 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