BCKDK

Chr 16

branched chain keto acid dehydrogenase kinase

Also known as: BCKDKD, BDK

NCBI Gene: 10295ENSG00000103507UniProt: O14874

The branched-chain alpha-ketoacid dehydrogenase complex (BCKD) is an important regulator of the valine, leucine, and isoleucine catabolic pathways. The protein encoded by this gene is found in the mitochondrion, where it phosphorylates and inactivates BCKD. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtBranched-chain ketoacid dehydrogenase kinase deficiency

Clinical highlights

Gene-disease validity (ClinGen)
branched-chain keto acid dehydrogenase kinase deficiency · ARDefinitivesufficient evidence for diagnostic panels
1
Active trials
43
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.87
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.87LOEUF
pLI 0.000
Z-score 2.00
OE 0.51 (0.31–0.87)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.64Z-score
OE missense 0.73 (0.65–0.82)
209 obs / 287.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.51 (0.31–0.87)
0≤0.351.4
Missense OE?0.73 (0.65–0.82)
0≤0.61.4
Synonymous OE?1.02
0≤1.21.6
LoF obs/exp: 10 / 19.6Missense obs/exp: 209 / 287.1Syn Z: -0.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BCKDK · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients