Metazoan complexes |
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Emili & Marcotte labs |
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Details of UQCRQ gene in Homo sapiens
IDs | |||||||||
---|---|---|---|---|---|---|---|---|---|
Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
| UQCRQ | --- | O14949 | QCR8_HUMAN | 27089 | ENSG00000164405 | Cytochrome b-c1 complex subunit 8 | SPROT |
Disease | |||||||||
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Disease | OMIM id | ||||||||
Mitochondrial complex III deficiency (MT-C3D) [MIM:124000]: A disorder of the mitochondrial respiratory chain resulting in a highly variable phenotype depending on which tissues are affected. Clinical features include mitochondrial encephalopathy, psychomotor retardation, ataxia, severe failure to thrive, liver dysfunction, renal tubulopathy, muscle weakness and exercise intolerance. Note=The disease is caused by mutations affecting the gene represented in this entry. | 124000 |
Orthologs in other species | |||||||||
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M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
Uqcrq | FBgn0036728 | F45H10.2... | SPU_027069 |
Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
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