Pathway

Loss-of-function mutations in DBT cause MSUD2

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).

Summary from Reactome (R-HSA-9865113), read 2026-09-23.

REACT:R-HSA-9865113Reactome

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What the reference databases state

Statements

4 statements

4 statements · 1 reference database · Subject: Loss-of-function mutations in DBT cause MSUD2 · Sources: Reactome

Order

BCKDHA participates in Loss-of-function mutations in DBT cause MSUD2ProteinReactome R-HSA-9865113Inferred only
BCKDHB participates in Loss-of-function mutations in DBT cause MSUD2ProteinReactome R-HSA-9865113Inferred only
DBT participates in Loss-of-function mutations in DBT cause MSUD2ProteinReactome R-HSA-9865113Inferred only
DLD participates in Loss-of-function mutations in DBT cause MSUD2ProteinReactome R-HSA-9865113Inferred only