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MIRAGE
adult-onset type II citrullinemia
Summary
- Synonym
-
- citrin deficiency
- Definition
- A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21.
- Super Class
- citrullinemia
External Links
- Disease Ontology
- DOID:0070342
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9UJS0 | Electrogenic aspartate/glutamate antiporter SLC25A13, mitochondrial |
