DBT Chromosome 1
Dihydrolipoamide branched chain transacylase E2
Upload your DNA to see your personal genotypes for variants in DBT.
What This Gene Does
The branched-chain alpha-keto acid dehydrogenase complex (BCKD) is an inner-mitochondrial enzyme complex involved in the breakdown of the branched-chain amino acids isoleucine, leucine, and valine. The BCKD complex is thought to be composed of a core of 24 transacylase (E2) subunits, and associated decarboxylase (E1), dehydrogenase (E3), and regulatory subunits. This gene encodes the transacylase (E2) subunit. Mutations in this gene result in maple syrup urine disease, type 2. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Branched chain alpha-keto acid dehydrogenase complex subunits
Locus Type
gene with protein product
Location
1p21.2
Ensembl
ENSG00000137992
Associated Conditions (6)
Maple syrup urine disease
Maple syrup urine disease type 1A
DBT-related disorder
Maple syrup urine disease type 2
Inborn genetic diseases
See cases
Key Variants
RS1131691488
Conflicting classifications of pathogenicity
Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease
Health Risk
RS113842781
Conflicting classifications of pathogenicity
Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease
Health Risk
RS138796800
Conflicting classifications of pathogenicity
Maple syrup urine disease, DBT-related disorder, Maple syrup urine disease
Health Risk
RS1449113689
Conflicting classifications of pathogenicity
Maple syrup urine disease, Maple syrup urine disease type 2, Maple syrup urine disease type 1A
Health Risk
RS148571335
Conflicting classifications of pathogenicity
Maple syrup urine disease, Inborn genetic diseases, Maple syrup urine disease
Health Risk
RS1663813561
Conflicting classifications of pathogenicity
Maple syrup urine disease, Maple syrup urine disease
Health Risk
RS199954954
Conflicting classifications of pathogenicity
Maple syrup urine disease, Inborn genetic diseases, Maple syrup urine disease
Health Risk
RS200339376
Conflicting classifications of pathogenicity
Maple syrup urine disease, Inborn genetic diseases, Maple syrup urine disease
Health Risk
RS201318480
Conflicting classifications of pathogenicity
Maple syrup urine disease, Maple syrup urine disease
Health Risk
RS201714436
Conflicting classifications of pathogenicity
Maple syrup urine disease, Maple syrup urine disease
Health Risk
RS398123658
Conflicting classifications of pathogenicity
Maple syrup urine disease, Maple syrup urine disease
Health Risk
RS398123662
Conflicting classifications of pathogenicity
Maple syrup urine disease, Maple syrup urine disease
Health Risk
All Variants (162)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1131691488 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease |
| RS113842781 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease |
| RS138796800 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, DBT-related disorder, Maple syrup urine disease |
| RS1449113689 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Maple syrup urine disease type 2, Maple syrup urine disease type 1A |
| RS148571335 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Inborn genetic diseases, Maple syrup urine disease |
| RS1663813561 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Maple syrup urine disease |
| RS199954954 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Inborn genetic diseases, Maple syrup urine disease |
| RS200339376 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Inborn genetic diseases, Maple syrup urine disease |
| RS201318480 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Maple syrup urine disease |
| RS201714436 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Maple syrup urine disease |
| RS398123658 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Maple syrup urine disease |
| RS398123662 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Maple syrup urine disease |
| RS398123669 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Maple syrup urine disease type 2, Maple syrup urine disease |
| RS398123672 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Maple syrup urine disease |
| RS533707792 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Inborn genetic diseases, Maple syrup urine disease |
| RS727503896 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease |
| RS749693779 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Inborn genetic diseases, Maple syrup urine disease |
| RS75525811 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, DBT-related disorder, Maple syrup urine disease |
| RS759312184 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Maple syrup urine disease |
| RS770981889 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Maple syrup urine disease type 2, Maple syrup urine disease |
| RS772490888 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease |
| RS776490043 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Maple syrup urine disease |
| RS79292123 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Maple syrup urine disease |
| RS794727856 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Maple syrup urine disease |
| RS886044964 | Health Risk | Conflicting classifications of pathogenicity | Maple syrup urine disease, Maple syrup urine disease |
| RS1064795955 | Health Risk | Likely pathogenic | — |
| RS1176555925 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease, Maple syrup urine disease |
| RS1271011315 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS1310427311 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS1342553753 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease, Maple syrup urine disease |
| RS1553228653 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1A, Maple syrup urine disease type 1A |
| RS1553229661 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease type 1A, Maple syrup urine disease |
| RS1553231037 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1A, Maple syrup urine disease type 1A |
| RS1553232188 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease, Maple syrup urine disease |
| RS1553232197 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1A, Maple syrup urine disease type 1A |
| RS1553233152 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1A, Maple syrup urine disease type 1A |
| RS1557943881 | Health Risk | Likely pathogenic | Maple syrup urine disease type 1A, Maple syrup urine disease, Maple syrup urine disease |
| RS1557956678 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS1661796496 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS1661797008 | Health Risk | Likely pathogenic | Maple syrup urine disease type 2, Maple syrup urine disease type 2 |
| RS1661797765 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS1663520073 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS1663522846 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS1663814011 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS1663814241 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS1663814857 | Health Risk | Likely pathogenic | Maple syrup urine disease type 2, Maple syrup urine disease type 2 |
| RS1664173086 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2100779875 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease type 2, Maple syrup urine disease |
| RS2100799417 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |
| RS2100844517 | Health Risk | Likely pathogenic | Maple syrup urine disease, Maple syrup urine disease |