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Glycan Structure Repository
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Glycoconjugate Repository
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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Repository for lectin-assisted multimodality data
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MIRAGE
systemic primary carnitine deficiency disease
Summary
- Synonym
-
- carnitine transporter deficiency
- carnitine uptake defect
- deficiency of plasma-membrane carnitine transporter
- primary carnitine deficiency
- renal carnitine transport defect
- Definition
- An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy.
- Super Class
- amino acid metabolic disorder
External Links
- Disease Ontology
- DOID:14365
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O76082 | Organic cation/carnitine transporter 2 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q5SX17 | Major facilitator superfamily (MFS) profile domain-containing protein |
