Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Ensembl
	HGNC	UniGene	Nucleotide	OMIM	UCSC

Home Page

FLASH GENE

Symbol

BCKDK

contributors: mct - updated : 07-02-2018

HGNC name	branched chain ketoacid dehydrogenase kinase
HGNC id	16902

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

BCKDKD

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Bckdk knockout mice show abnormal brain amino acid profiles and neurobehavioral deficits that respond to dietary supplementation
	mice deficient for Bckdk display increased basal activity of the BCKDH complex as well as reduced BCAAs in various tissues, and neurological deficits were completely abolished within a week of the Bckdk-/- mice starting the BCAA-enriched diet, which suggests that they have an inducible yet reversible phenotype