BCKDK (branched chain keto acid dehydrogenase kinase)

2006-10-01  

Identity

HGNC
LOCATION
16p11.2
LOCUSID
ALIAS
BCKDKD,BDK

Other Information

Locus ID:

NCBI: 10295
MIM: 614901
HGNC: 16902
Ensembl: ENSG00000103507

Variants:

dbSNP: 10295
ClinVar: 10295
TCGA: ENSG00000103507
COSMIC: BCKDK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000103507ENST00000219794O14874
ENSG00000103507ENST00000219794A0A024QZA9
ENSG00000103507ENST00000287507O14874
ENSG00000103507ENST00000394950O14874
ENSG00000103507ENST00000394951O14874
ENSG00000103507ENST00000394951A0A024QZA9
ENSG00000103507ENST00000484226H3BTL2
ENSG00000103507ENST00000561755H3BQP2
ENSG00000103507ENST00000567530H3BS02
ENSG00000103507ENST00000567676H3BNP3
ENSG00000103507ENST00000567682H3BUV3

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
MetabolismREACTOMER-HSA-1430728
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Branched-chain amino acid catabolismREACTOMER-HSA-70895

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
244494312014Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients.15
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
118397472002Solution structure and dynamics of the lipoic acid-bearing domain of human mitochondrial branched-chain alpha-keto acid dehydrogenase complex.7
153028602004Tissue-specific translation of murine branched-chain alpha-ketoacid dehydrogenase kinase mRNA is dependent upon an upstream open reading frame in the 5'-untranslated region.5
285015282017BCKDK of BCAA Catabolism Cross-talking With the MAPK Pathway Promotes Tumorigenesis of Colorectal Cancer.4
277736582016The plasma levels of CST and BCKDK in patients with sepsis.1

Citation

Dessen P

BCKDK (branched chain keto acid dehydrogenase kinase)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43162/bckdk-(branched-chain-keto-acid-dehydrogenase-kinase)