Disease-gene associations mined from literature

Literature associating BCKDK and branched-chain keto acid dehydrogenase kinase deficiency

BCKDK [ENSP00000378405]

[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial; Catalyzes the phosphorylation and inactivation of the branched-chain alpha-ketoacid dehydrogenase complex, the key regulatory enzyme of the valine, leucine and isoleucine catabolic pathways. Key enzyme that regulate the activity state of the BCKD complex.

Synonyms:  BCKDK,  A0A024QZA9,  BCKDK-001,  BCKDK-002,  BCKDK-003 ...

Linkouts:  STRING  Pharos  UniProt