Literature summary for 2.7.11.4 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

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

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

Organism	UniProt	Comment	Textmining
Homo sapiens	Q14874	-	-

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

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

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Release 2023.1 (January 2023)