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MIRAGE
Loss-of-function mutations in DBT cause MSUD2
Summary
- Organism
- Homo sapiens (human)
- Reactome
- R-HSA-9865113
- PubChem
- R-HSA-9865113
- Description
-
- Loss-of-function mutations in DBT disrupt the integrity of the E2 subunit of BCKDH, resulting in MSUD2 (reviewed in Strauss et al, 2020; Biswas et al, 2019).
Click on a node on the pathway to see its details. Glycoproteins are marked with a glycoprotein icon in their name.
| UniProt ID | Protein Name | Gene Symbol | Pathway Viewer |
|---|---|---|---|
| P09622 | Dihydrolipoyl dehydrogenase, mitochondrial |
|
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