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Details of GFM1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| GFM1 | EFG,EFG1,GFM | Q96RP9 | EFGM_HUMAN | 85476 | ENSG00000168827 | Elongation factor G, mitochondrial | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Combined oxidative phosphorylation deficiency 1 (COXPD1) [MIM:609060]: A mitochondrial disease resulting in early rapidly progressive hepatoencephalopathy. Note=The disease is caused by mutations affecting the gene represented in this entry. | 609060 | ||||||||
Phenotypes
Abnormal axial skeleton morphology, Abnormality of acid-base homeostasis, Abnormality of central motor function, Abnormality of head and neck, Abnormality of higher mental function, Abnormality of metabolism/homeostasis, Abnormality of movement, Abnormality of pyramidal motor function, Abnormality of skeletal morphology, Abnormality of skull size, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the basal ganglia, Abnormality of the biliary system, Abnormality of the central nervous system, Abnormality of the cerebral subcortex, Abnormality of the cerebral white matter, Abnormality of the cerebrum, Abnormality of the corpus callosum, Abnormality of the forebrain, Abnormality of the head, Abnormality of the liver, Abnormality of the nervous system, Abnormality of the skeletal system, Abnormality of the skull, Acidosis, Acute hepatic failure, Age of onset, All, Aplasia/Hypoplasia involving the central nervous system, Aplasia/Hypoplasia of the cerebrum, Aplasia/Hypoplasia of the corpus callosum, Atrophy/Degeneration affecting the central nervous system, Autosomal recessive inheritance, Basal ganglia cysts, Cholestasis, Cognitive impairment, Congenital onset, Decreased liver function, Diffuse brain atrophy, Diminished movement, Fulminant hepatic failure, Global developmental delay, Growth abnormality, Growth delay, Hepatic failure, Hepatic necrosis, Hepatic periportal necrosis, Hepatocellular necrosis, Heterogeneous, Hypertonia, Hypokinesia, Hypoplasia of the corpus callosum, Increased serum lactate, Intracranial cystic lesion, Intrauterine growth retardation, Microcephaly, Mitochondrial inheritance, Mode of inheritance, Morphological abnormality of the central nervous system, Motor delay, Onset, Onset and clinical course, Phenotypic abnormality.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Gfm1 | ico | F29C12.4 | Sp-Gfm1 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| MRPS7 | GFM1 | 0.539580021 | MRPS7 | GFM1 | cpx160 | no | no | no | Novel |
| GFM1 | TUFM | 0.688989386 | GFM1 | TUFM | cpx160 | no | no | no | Novel |