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Symbol Name ID |
Hlcs
holocarboxylase synthetase (biotin- [propriony-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase) MGI:894646 |
| Darker colors indicate more annotations |
| Human Phenotypes | Hyperammonemia |
Reduced holocarboxylase synthetase activity in cultured fibroblasts |
Lactic acidosis |
Metabolic acidosis |
Elevated urinary 3-methylcrotonylglycine level |
Organic aciduria |
3-hydroxyisovaleric aciduria |
| Disease(s) Associated with HLCS | |||||||
| holocarboxylase synthetase deficiency |
| Mouse Phenotypes | decreased circulating calcium level |
decreased circulating phosphate level |
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| Availability | Mouse Genotype | ||
| Hlcsem1(IMPC)J/Hlcs+ | |||
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 05/07/2024 MGI 6.23 |
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