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Gene Review

BCKDHB  -  branched chain keto acid dehydrogenase E1,...

Homo sapiens

Synonyms: 2-oxoisovalerate dehydrogenase subunit beta, mitochondrial, BCKDE1B, BCKDH E1-beta, Branched-chain alpha-keto acid dehydrogenase E1 component beta chain, E1B, ...
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High impact information on BCKDHB


Other interactions of BCKDHB

  • 92.5% of alleles have been characterized, and the mutational spectrum includes 36 different sequence variations presumably leading to loss-of-function, 15 changes in the BCKDHA, 14 in the BCKDHB, and seven in the DBT genes [5].


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