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Repository for lectin-assisted multimodality data
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Guidelines
MIRAGE
3-methylcrotonyl-CoA carboxylase 1 deficiency
Summary
- Definition
- A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27.
- Super Class
- 3-methylcrotonyl-CoA carboxylase deficiency
External Links
- Disease Ontology
- DOID:0080579
- Mondo Disease Ontology
- MeSH
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q96RQ3 | Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial |
