Symbol Name ID |
Surf1
surfeit gene 1 MGI:98443 |
Darker colors indicate more annotations |
Human Phenotypes | Decreased activity of mitochondrial respiratory chain |
Decreased activity of mitochondrial complex I |
Decreased activity of mitochondrial complex II |
Decreased activity of mitochondrial complex III |
Decreased activity of mitochondrial complex IV |
Decreased activity of the pyruvate dehydrogenase complex |
Hyperalaninemia |
Increased CSF lactate |
Abnormal circulating enzyme concentration or activity |
Decreased circulating biotinidase concentration |
Hypoglycemia |
Increased circulating lactate concentration |
Ketoacidosis |
Lactic acidosis |
Renal tubular acidosis |
Renal Fanconi syndrome |
Increased hepatocellular lipid droplets |
Increased intramyocellular lipid droplets |
Hyperphosphaturia |
Glycosuria |
3-Methylglutaconic aciduria |
Ethylmalonic aciduria |
Methylmalonic aciduria |
Proteinuria |
Aminoaciduria |
Generalized aminoaciduria |
Lacticaciduria |
Complex organic aciduria |
Exercise intolerance |
Disease(s) Associated with SURF1 | |||||||||||||||||||||||||||||
Charcot-Marie-Tooth disease type 4K | |||||||||||||||||||||||||||||
Leigh disease | |||||||||||||||||||||||||||||
mitochondrial complex IV deficiency nuclear type 1 |
Mouse Phenotypes | decreased susceptibility to neuronal excitotoxicity |
abnormal enzyme/coenzyme activity |
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Availability | Mouse Genotype | ||
Surf1tm2.1Zev/Surf1tm2.1Zev |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 08/02/2024 MGI 6.24 |
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