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Branched chain ketoacid dehydrogenase kinase (
BCKDK) is an
enzyme encoded by the
BCKDK gene on
chromosome 16. This
enzyme is part of the mitochondrial...
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dehydrogenase kinase deficiency (
BCKDK deficiency) is a
disease resulting from
mutations of the
BCKDK gene.
Patients with
BCKDK deficiency have low
levels of...
- SD,
Artuch R,
Dixon M, Mørkrid L, García-Cazorla A (2
February 2023). "
BCKDK deficiency: a
treatable neurodevelopmental disease amenable to
newborn screening"...
- HGNC:983 P06276 1467
BCKDHA HGNC:986 P12694 1468
BCKDHB HGNC:987 P21953 1469
BCKDK HGNC:16902 O14874 1470 BCL2 HGNC:990 P10415 1471 BCL2A1 HGNC:991 Q16548...
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isozyme of
pyruvate dehydrogenase kinase. This gene is a
member of the PDK/
BCKDK protein kinase family and
encodes a
mitochondrial protein with a histidine...
- InterPro: IPR020575
Sensor histidine kinase NatK, C-terminal
domain InterPro: IPR032834
BCKDK HSP90AA1, HSP90AB1, HSP90B1 MLH1, MLH3, MORC1, MORC2, MORC3, MORC4 PDK1...
- 2024). "Com****tional
structural genomics and
clinical evidence suggest BCKDK gain-of-function may
cause a
potentially asymptomatic maple syrup urine...
- 3-methyl-2-oxobutanoate
dehydrogenase (acetyl-transferring)
kinase (EC 2.7.11.4)
BCKDK BCKDHA BCKDHB (isocitrate
dehydrogenase (NADP+))
kinase (EC 2.7.11.5) IDH2...
- 3-methyl-2-oxobutanoate
dehydrogenase (acetyl-transferring)
kinase (EC 2.7.11.4)
BCKDK BCKDHA BCKDHB (isocitrate
dehydrogenase (NADP+))
kinase (EC 2.7.11.5) IDH2...
- 3-methyl-2-oxobutanoate
dehydrogenase (acetyl-transferring)
kinase (EC 2.7.11.4)
BCKDK BCKDHA BCKDHB (isocitrate
dehydrogenase (NADP+))
kinase (EC 2.7.11.5) IDH2...
