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This nuclear gene encodes a mitochondrial matrix protein that appears to contribute to peptide chain termination in the mitochondrial translation machinery. Two different 1 bp deletions (resulting in the same premature stop codon)result in decreased mitochondrial translation, decreased levels of oxidative phosphorylation complexes and encepthalomyopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2010]
MTRFR (Mitochondrial Translation Release Factor In Rescue) is a Protein Coding gene. Diseases associated with MTRFR include Spastic Paraplegia 55, Autosomal Recessive and Combined Oxidative Phosphorylation Deficiency 7.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003747 | translation release factor activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | NAS | 20186120 |
GO:0005762 | mitochondrial large ribosomal subunit | IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006412 | translation | IEA | -- |
GO:0006415 | translational termination | IEA | -- |
This gene was present in the common ancestor of animals and fungi.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | C12H12orf65 30 |
|
||
C12orf65 31 |
|
OneToOne | |||
Dog (Canis familiaris) |
Mammalia | C26H12orf65 30 |
|
||
C12orf65 31 |
|
OneToOne | |||
Cow (Bos Taurus) |
Mammalia | C17H12orf65 30 |
|
||
C12orf65 31 |
|
OneToOne | |||
Rat (Rattus norvegicus) |
Mammalia | RGD1563482 30 |
|
||
Mouse (Mus musculus) |
Mammalia | 2810006K23Rik 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | C12orf65 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | C12orf65 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | C15H12ORF65 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | C12orf65 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC101734452 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100004452 30 |
|
||
C12orf65 (1 of 2) 31 |
|
OneToMany | |||
C5H12orf65 (2 of 2) 31 |
|
OneToMany | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | CG30100 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | -- 31 |
|
OneToOne | |
-- 33 |
|
|
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
635867 | Pathogenic: Neurodevelopmental disorder | 123,252,157(+) |
GATGCAGTGGCTCACG
NM_152269.5(MTRFR):c.-28-1489_283-968del |
SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT,INITIATIOR_CODON | |
834522 | Pathogenic: Spastic paraplegia; Combined oxidative phosphorylation deficiency 7 | 123,256,836(+) |
TC/T NM_152269.5(MTRFR):c.307del (p.Gln103fs) |
FRAMESHIFT | |
859045 | Pathogenic: Spastic paraplegia; Combined oxidative phosphorylation deficiency 7 | 123,253,706(+) |
C/CA NM_152269.5(MTRFR):c.33dup (p.Pro12fs) |
FRAMESHIFT | |
881087 | Uncertain Significance: Combined oxidative phosphorylation deficiency 7 | 123,257,016(+) |
T/G NM_152269.5(MTRFR):c.486T>G (p.Ser162Arg) |
MISSENSE | |
881088 | Uncertain Significance: Combined oxidative phosphorylation deficiency 7 | 123,257,044(+) |
A/C NM_152269.5(MTRFR):c.*13A>C |
THREE_PRIME_UTR |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2761773 | CNV | gain | 21179565 |
esv28503 | CNV | loss | 19812545 |
esv3581949 | CNV | gain | 25503493 |
esv3630986 | CNV | loss | 21293372 |
esv996114 | CNV | gain | 20482838 |
Disorder | Aliases | PubMed IDs |
---|---|---|
spastic paraplegia 55, autosomal recessive |
|
|
combined oxidative phosphorylation deficiency 7 |
|
|
agenesis of corpus callosum, cardiac, ocular, and genital syndrome |
|
|
combined oxidative phosphorylation deficiency |
|
|
paraplegia |
|
|