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Symbol Name ID |
Pcbd1
pterin 4 alpha carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1) 1 MGI:94873 |
| Darker colors indicate more annotations |
| Human Phenotypes | Hypomagnesemia |
Hyperphenylalaninemia |
Transient hyperphenylalaninemia |
Abnormal circulating biopterin concentration |
Abnormal circulating neopterin concentration |
Maturity-onset diabetes of the young |
Elevated urinary 7-biopterin level |
| Disease(s) Associated with PCBD1 | |||||||
| BH4-deficient hyperphenylalaninemia D |
| Mouse Phenotypes | increased circulating phenylalanine level |
increased circulating insulin level |
impaired glucose tolerance |
ketoaciduria |
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| Availability | Mouse Genotype | ||||
| Pcbd1tm1Grc/Pcbd1tm1Grc | |||||
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 04/23/2024 MGI 6.23 |
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