BCKDK

BCKDK
Identifiers
Aliases	BCKDK, BCKDKD, BDK, branched chain ketoacid dehydrogenase kinase, branched chain keto acid dehydrogenase kinase
External IDs	OMIM: 614901; MGI: 1276121; HomoloGene: 37642; GeneCards: BCKDK; OMA:BCKDK - orthologs
Gene location (Human)
Chr.	Chromosome 16 (human)
End	31,112,791 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	127,509,393 bp
RNA expression pattern
	Top expressed in
	apex of heart; ; right adrenal gland; ; right adrenal cortex; ; body of pancreas; ; left adrenal gland; ; left adrenal cortex; ; gastrocnemius muscle; ; muscle of thigh; ; left ventricle; ; parotid gland;
	Top expressed in
	lacrimal gland; ; muscle of thigh; ; saccule; ; parotid gland; ; yolk sac; ; otic vesicle; ; submandibular gland; ; otic placode; ; extensor digitorum longus muscle; ; right kidney;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	transferase activity; nucleotide binding; protein serine/threonine kinase activity; protein kinase activity; transferase activity, transferring phosphorus-containing groups; protein binding; ATP binding; kinase activity; [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring) kinase activity];
Cellular component	mitochondrial matrix; mitochondrial alpha-ketoglutarate dehydrogenase complex; mitochondrion;
Biological process	protein phosphorylation; cellular amino acid catabolic process; branched-chain amino acid catabolic process; phosphorylation;
	Sources:Amigo / QuickGO
Orthologs
	10295
	12041
	ENSG00000103507
	ENSMUSG00000030802
	O14874
	O55028
	NM_005881; NM_001122957; NM_001271926
	NM_009739
	NP_001116429; NP_001258855; NP_005872; NP_005872.2
	NP_033869
	Wikidata
View/Edit Human	View/Edit Mouse

Branched chain ketoacid dehydrogenase kinase (BCKDK) is an enzyme encoded by the BCKDK gene on chromosome 16. This enzyme is part of the mitochondrial protein kinases family and it is a regulator of the valine, leucine, and isoleucine catabolic pathways. BCKDK is found in the mitochondrial matrix and the prevalence of it depends on the type of cell. Liver cells tend to have the lowest concentration of BCKDK, whereas skeletal muscle cells have the highest amount. Abnormal activity of this enzyme often leads to diseases such as maple syrup urine disease and cachexia.