Metazoan complexes |
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Emili & Marcotte labs |
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Details of C12orf65 gene in Homo sapiens
IDs | |||||||||
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Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| C12orf65 | --- | Q9H3J6 | CL065_HUMAN | 91574 | ENSG00000130921 | Probable peptide chain release factor C12orf65, mitochondrial | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Combined oxidative phosphorylation deficiency 7 (COXPD7) [MIM:613559]: A mitochondrial disease resulting in encephalomyopathy. Clinical manifestations include psychomotor delay and regression, ataxia, optic atrophy, nystagmus and muscle atrophy and weakness. Note=The disease is caused by mutations affecting the gene represented in this entry. | 613559 |
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
ENSMUSG00000047635 | FBgn0050100 | T23B5.4 | SPU_004651 |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
---|---|---|---|---|---|---|---|---|---|
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
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