BCKDK Chromosome 16
Branched chain keto acid dehydrogenase kinase
Upload your DNA to see your personal genotypes for variants in BCKDK.
What This Gene Does
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]
Gene Info
Gene Group
"Pyruvate dehydrogenase kinase family|Branched chain alpha-keto acid dehydrogenase complex subunits"
Locus Type
gene with protein product
Location
16p11.2
Ensembl
ENSG00000103507
Associated Conditions (4)
Branched-chain keto acid dehydrogenase kinase deficiency
BCKDK-related disorder
Intellectual disability
See cases
Key Variants
RS141335706
Conflicting classifications of pathogenicity
Branched-chain keto acid dehydrogenase kinase deficiency, BCKDK-related disorder, Branched-chain keto acid dehydrogenase kinase deficiency
Health Risk
RS142542453
Conflicting classifications of pathogenicity
Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency
Health Risk
RS145180240
Conflicting classifications of pathogenicity
Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency
Health Risk
RS201614853
Conflicting classifications of pathogenicity
Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency
Health Risk
RS374121679
Conflicting classifications of pathogenicity
Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency
Health Risk
RS2057404166
Likely pathogenic
Intellectual disability, Intellectual disability
Health Risk
RS369521689
Likely pathogenic
Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency
Health Risk
RS371569147
Likely pathogenic
Health Risk
RS377423130
Likely pathogenic
Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency
Health Risk
RS989757942
Likely pathogenic
See cases, See cases
Health Risk
RS147210405
Pathogenic
Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency
Health Risk
RS2057392733
Pathogenic
Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency
Health Risk
All Variants (16)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141335706 | Health Risk | Conflicting classifications of pathogenicity | Branched-chain keto acid dehydrogenase kinase deficiency, BCKDK-related disorder, Branched-chain keto acid dehydrogenase kinase deficiency |
| RS142542453 | Health Risk | Conflicting classifications of pathogenicity | Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency |
| RS145180240 | Health Risk | Conflicting classifications of pathogenicity | Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency |
| RS201614853 | Health Risk | Conflicting classifications of pathogenicity | Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency |
| RS374121679 | Health Risk | Conflicting classifications of pathogenicity | Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency |
| RS2057404166 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS369521689 | Health Risk | Likely pathogenic | Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency |
| RS371569147 | Health Risk | Likely pathogenic | — |
| RS377423130 | Health Risk | Likely pathogenic | Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency |
| RS989757942 | Health Risk | Likely pathogenic | See cases, See cases |
| RS147210405 | Health Risk | Pathogenic | Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency |
| RS2057392733 | Health Risk | Pathogenic | Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency |
| RS2143936992 | Health Risk | Pathogenic | Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency |
| RS2544145079 | Health Risk | Pathogenic | Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency |
| RS397514573 | Health Risk | Pathogenic | Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency |
| RS1035318937 | Health Risk | Pathogenic/Likely pathogenic | Branched-chain keto acid dehydrogenase kinase deficiency, Branched-chain keto acid dehydrogenase kinase deficiency |