|
Symbol Name ID |
Bcs1l
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone MGI:1914071 |
| Darker colors indicate more annotations |
| Human Phenotypes | Decreased activity of mitochondrial complex III |
Increased circulating iron concentration |
Decreased transferrin saturation |
Increased serum pyruvate |
Hypertyrosinemia |
Increased circulating ferritin concentration |
Elevated circulating hepatic transaminase concentration |
Elevated gamma-glutamyltransferase level |
Elevated circulating alkaline phosphatase concentration |
Hyperglycemia |
Hypoglycemia |
Recurrent hypoglycemia |
Chronic lactic acidosis |
Increased circulating lactate concentration |
Lactic acidosis |
Severe lactic acidosis |
Metabolic acidosis |
Renal Fanconi syndrome |
Elevated lactate:pyruvate ratio |
Elevated hepatic iron concentration |
Hepatic steatosis |
Microvesicular hepatic steatosis |
Aminoaciduria |
Lacticaciduria |
Exercise intolerance |
| Disease(s) Associated with BCS1L | |||||||||||||||||||||||||
| GRACILE syndrome | |||||||||||||||||||||||||
| mitochondrial complex III deficiency nuclear type 1 |
| Mouse Phenotypes | decreased circulating arginine level |
increased circulating citrulline level |
increased circulating ornithine level |
decreased circulating glucose level |
increased circulating lactate level |
increased circulating alanine transaminase level |
increased circulating alkaline phosphatase level |
abnormal enzyme/coenzyme level |
decreased liver glycogen level |
increased liver iron level |
ketosis |
|
| Availability | Mouse Genotype | |||||||||||
| Bcs1ltm1.1Levp/Bcs1ltm1.1Levp | ||||||||||||
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 04/16/2024 MGI 6.23 |
|
|
|
||
Analysis Tools