-
Branched chain ketoacid dehydrogenase kinase (
BCKDK) is an
enzyme encoded by the
BCKDK gene on
chromosome 16. This
enzyme is part of the mitochondrial...
-
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"...
- 2024). "Com****tional
structural genomics and
clinical evidence suggest BCKDK gain-of-function may
cause a
potentially asymptomatic maple syrup urine...
-
Maple syrup urine disease—excessive ac****ulation of BCAA in the
organism BCKDK deficiency—insufficient
levels of BCAA in the
organism Sowers S. "A Primer...
- 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...
- (
BCKDK).
Mutations found in
BCKDK were
found in
consanguineous families with epilepsy, autism, and
intellectual disabilities. Previously, the
BCKDK was...
- 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...
- InterPro: IPR020575
Sensor histidine kinase NatK, C-terminal
domain InterPro: IPR032834
BCKDK HSP90AA1, HSP90AB1, HSP90B1 MLH1, MLH3, MORC1, MORC2, MORC3, MORC4 PDK1...
