DBT Gene (Dihydrolipoamide Branched Chain Transacylase E2)
Key component of the branched-chain alpha-keto acid dehydrogenase (BCKD) complex; mutations cause maple syrup urine disease (MSUD).
Gene Information Card
| Symbol | DBT |
|---|---|
| Full Name | Dihydrolipoamide Branched Chain Transacylase E2 |
| Gene Type | Protein coding |
| Chromosomal Location | 1p21.2 |
| NCBI Gene ID | 1629 ncbi.nlm.nih.gov/gene/1629 |
| Ensembl ID | ENSG00000137992 |
| UniProt ID | P11182 |
| OMIM ID | 248610 |
| HGNC ID | 2698 |
| Aliases | BCKDH-E2, BCKAD-E2, MSUD1 |
Description
The DBT gene encodes the E2 component (dihydrolipoamide branched chain transacylase) of the mitochondrial branched-chain alpha-keto acid dehydrogenase (BCKD) complex. This complex catalyzes the oxidative decarboxylation of branched-chain alpha-keto acids derived from leucine, isoleucine, and valine. Mutations in DBT cause maple syrup urine disease (MSUD), an autosomal recessive disorder of branched-chain amino acid metabolism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Maple Syrup Urine Disease (MSUD) | Loss-of-function mutations in DBT impair BCKD complex activity, leading to accumulation of branched-chain amino acids and their keto acids. | ClinVar, OMIM |
| Branched-Chain Keto Acid Dehydrogenase Deficiency | Deficient E2 transacylase activity disrupts the overall BCKD complex function. | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | High |
| Kidney | 8.3 | Medium |
| Heart | 6.1 | Medium |
| Skeletal Muscle | 4.7 | Medium |
| Brain | 2.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 10.2 | Liver-derived cell line |
| HEK 293 | 7.8 | Embryonic kidney |
| K-562 | 4.1 | Leukemia cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.982G>A (p.Gly328Arg) | Missense | Common in MSUD | Loss of function |
| c.1174C>T (p.Arg392Trp) | Missense | Reported | Loss of function |
| c.1312C>T (p.Arg438Trp) | Missense | Reported | Loss of function |
| c.1A>G (p.Met1?) | Start loss | Rare | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Most DBT mutations result in loss of E2 transacylase activity, reducing BCKD complex function and causing MSUD.
Gain of Function (GOF)
Not reported for DBT.
Dominant Negative (DN)
Not reported; MSUD is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Branched-chain amino acid degradation (KEGG: hsa00280)
• Metabolic pathways (KEGG: hsa01100)
Protein Summary
The DBT protein (dihydrolipoamide branched chain transacylase E2) is a 482-amino acid mitochondrial enzyme that forms the core of the BCKD complex. It contains a lipoyl domain that transfers acyl groups from branched-chain alpha-keto acids to coenzyme A. The protein is essential for catabolism of leucine, isoleucine, and valine.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DBT Knockout HEK293 Cell Line | EDJ-KQ4430 | Human | 1629 | Details Get a Quote |
| DBT Knockout A-549 Cell Line | EDJ-KQ26971 | Human | 1629 | Details Get a Quote |
| DBT Knockout HeLa Cell Line | EDJ-KQ26973 | Human | 1629 | Details Get a Quote |
| DBT Knockout HCT 116 Cell Line | EDJ-KQ25703 | Human | 1629 | Details Get a Quote |
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