|
Symbol Name ID |
Alas2
aminolevulinic acid synthase 2, erythroid MGI:87990 |
| Darker colors indicate more annotations |
| Human Phenotypes | Reduced erythrocyte uroporphyrinogen III cosynthase activity |
Abnormality of iron homeostasis |
Increased circulating iron concentration |
Hypertriglyceridemia |
Abnormal circulating porphyrin concentration |
Elevated circulating uroporphyrin concentration |
Increased erythrocyte protoporphyrin concentration |
Increased circulating ferritin concentration |
Elevated circulating hepatic transaminase concentration |
Hypoglycemia |
Edema |
Nonimmune hydrops fetalis |
Increased fecal coproporphyrin 1 |
Pink urine |
Red urine |
Corneal scarring |
Atypical scarring of skin |
| Disease(s) Associated with ALAS2 | |||||||||||||||||
| cutaneous porphyria | |||||||||||||||||
| erythropoietic protoporphyria | |||||||||||||||||
| hemochromatosis |
| Mouse Phenotypes | abnormal iron level |
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| Availability | Mouse Genotype | |
| Alas2tm1Mym/Y | ||
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 05/14/2024 MGI 6.23 |
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