Literature summary extracted from

Garcia-Cazorla, A.; Oyarzabal, A.; Fort, J.; Robles, C.; Castejon, E.; Ruiz-Sala, P.; Bodoy, S.; Merinero, B.; Lopez-Sala, A.; Dopazo, J.; Nunes, V.; Ugarte, M.; Artuch, R.; Palacin, M.; Rodriguez-Pombo, P.; Alcaide, P.; Navarrete, R.; Sanz, P.; Font-Llitjos, M.; Vilaseca, M.A.; Ormaizabal, A.; P, P.r.
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients (2014), Hum. Mutat., 35, 470-477.

Protein Variants

EC Number	Protein Variants	Comment	Organism
2.7.11.4	L389P	the mutation is associated with developmental delay, microcephaly, and neurobehavioral abnormalities	Homo sapiens
2.7.11.4	R174G	the mutation is associated with developmental delay, microcephaly, and neurobehavioral abnormalities	Homo sapiens

EC Number	Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
2.7.11.4	ATP + [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)]	Homo sapiens	-	ADP + [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] phosphate	-	?

EC Number	Organism	UniProt	Comment	Textmining
2.7.11.4	Homo sapiens	Q14874	-	-

EC Number	Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
2.7.11.4	ATP + [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)]	-	Homo sapiens	ADP + [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] phosphate	-	?

EC Number	Synonyms	Comment	Organism
2.7.11.4	BCKDK	-	Homo sapiens
2.7.11.4	branched-chain alpha-keto acid dehydrogenase kinase complex	-	Homo sapiens

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Release 2023.1 (January 2023)